Is RBP1 p.Asp152= (c.456C>T) pathogenic?

RBP1 p.Asp152= (c.456C>T) is classified Benign in RBP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-11-25). Rare (popmax 0.428%, afr).

How common is RBP1 p.Asp152= (c.456C>T) in the general population?

RBP1 p.Asp152= (c.456C>T) is rare (popmax 0.428%, afr) (gnomAD).

RBP1 p.Asp152=

c.456C>T · rs148593360 · VCV1563901

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.428%, afr)

⚠ 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 -10	GERP -4.3
Overall
CADD	0.359	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.428% African / African-American · 321/74,998 alleles

Filtering AF 0.389% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.374%

Overall 0.0332% 535/1,613,754 alleles · rare exomes 346/1,461,536 · genomes 189/152,218 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.428%	234
Admixed American	0.147%	682
Middle Eastern	0.033%	3,030
Remaining individualsnot grpmax-eligible	0.0272%	3,676
European (non-Finnish)	0.00856%	11,682
South Asian	0.00439%	22,761
East Asian	0.00223%	44,844
Finnishnot grpmax-eligible	0.00156%	63,918

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.Asp152=
Coding: c.456C>T
MANE Select: NM_002899
dbSNP: rs148593360
Type: single nucleotide variant
Location: chr3:139518505 (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-asp152 (accessed [today's date]).

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