Is RBP3 p.Pro308= (c.924G>A) pathogenic?

RBP3 p.Pro308= (c.924G>A) is classified Benign in RBP3 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2026-01-20). Rare (popmax 0.928%, afr); Associated with retinitis pigmentosa.

What condition is associated with RBP3 p.Pro308= (c.924G>A)?

RBP3 p.Pro308= (c.924G>A) is associated with retinitis pigmentosa (ClinVar).

How common is RBP3 p.Pro308= (c.924G>A) in the general population?

RBP3 p.Pro308= (c.924G>A) is rare (popmax 0.928%, afr) (gnomAD).

How is Retinitis pigmentosa inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

RBP3 p.Pro308=

c.924G>A · rs35746996 · VCV716931

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

rare (popmax 0.928%, afr)

Conditions

retinitis pigmentosa

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -13	GERP -3
Overall
CADD	0.068	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.928% African / African-American · 696/75,030 alleles

Filtering AF 0.871% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.848%

Overall 0.0527% 849/1,611,846 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.928%	108
Admixed American	0.095%	1,053
Remaining individualsnot grpmax-eligible	0.0832%	1,202
Middle Eastern	0.0165%	6,060
European (non-Finnish)	0.00356%	28,095
East Asian	0.00223%	44,864

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: RBP3
Protein: p.Pro308=
Coding: c.924G>A
MANE Select: NM_005225 · reported on NM_002900
dbSNP: rs35746996
Type: single nucleotide variant
Location: chr10:47349408 (GRCh38)
Structure: AlphaFold pLDDT 63.40 · 8 PDB
Residue 308: the 'required for interaction with trim28' region; the 'disordered' region

Full RBP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

retinitis pigmentosa — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Retinitis pigmentosa (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Onset: Adolescent, Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

RBP3 p.Pro308Gln Uncertain significance ★ ⚠ same residue
RBP3 p.Pro308Leu Uncertain significance ★ ⚠ same residue
RBP3 p.Ala263Ser Uncertain significance ★★ ⚠ same condition
RBP3 p.Ala312Thr Uncertain significance ★★ same condition
RBP3 p.Ala379Thr Uncertain significance ★★ ⚠ same condition
RBP3 p.Ala403Thr Uncertain significance ★★ ⚠ same condition
RBP3 p.Ala688Val Uncertain significance ★★ ⚠ same condition
RBP3 p.Ala803Thr Uncertain significance ★★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/rbp3-p-pro308 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown