Is RBP1 p.Pro64= (c.192A>G) pathogenic?

RBP1 p.Pro64= (c.192A>G) is classified Benign in RBP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-12-19). Rare (popmax 0.902%, sas).

How common is RBP1 p.Pro64= (c.192A>G) in the general population?

RBP1 p.Pro64= (c.192A>G) is rare (popmax 0.902%, sas) (gnomAD).

RBP1 p.Pro64=

c.192A>G · rs576300739 · VCV1547446

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.902%, sas)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -1.3	GERP -3
Overall
CADD	8.385	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.902% South Asian · 818/90,654 alleles

Filtering AF 0.851% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.831%

Overall 0.0541% 873/1,612,376 alleles · rare exomes 832/1,460,108 · genomes 41/152,268 · joint denominator

Ancestry group	Frequency	1 in
South Asiangrpmax	0.902%	111
Remaining individualsnot grpmax-eligible	0.0721%	1,387
Middle Eastern	0.066%	1,515
East Asian	0.00223%	44,758
Admixed American	0.00167%	59,922
European (non-Finnish)	0.000339%	294,810

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: RBP1
Protein: p.Pro64=
Coding: c.192A>G
MANE Select: NM_002899
dbSNP: rs576300739
Type: single nucleotide variant
Location: chr3:139539527 (GRCh38)

Full RBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/rbp1-p-pro64 (accessed [today's date]).

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