RAB3GAP1 p.Phe968=
c.2904T>C · rs146045827 · VCV130069
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.268%, afr)
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 0.25 | GERP -2, phastCons 0.98 |
| Overall | ||
| CADD | 12.75 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.268%
African / African-American · 201/75,062 alleles
Filtering AF
0.237%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.226%
Overall
0.0152%
246/1,614,208 alleles · rare
exomes 118/1,461,876 · genomes 128/152,332 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.268% | 373 |
| Admixed American | 0.035% | 2,859 |
| Remaining individualsnot grpmax-eligible | 0.0224% | 4,465 |
| Finnishnot grpmax-eligible | 0.00156% | 64,046 |
| South Asian | 0.0011% | 91,088 |
| European (non-Finnish) | 0.000678% | 147,501 |
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
- RAB3GAP1
- Protein
- p.Phe968=
- Coding
- c.2904T>C
- MANE Select
- NM_012233
- dbSNP
- rs146045827
- Type
- single nucleotide variant
- Location
- chr2:135168739 (GRCh38)
- Gene constraint
- LOEUF 0.798 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 78.46 · 1 PDB
- Residue 968
- a β-strand
Similar variants
- RAB3GAP1 c.18+1G>C Likely pathogenic ★★ same type
- RAB3GAP1 c.2607-1G>C Pathogenic ★★ same type
- RAB3GAP1 c.748+1G>A Pathogenic ★★ same type
- RAB3GAP1 c.899+1G>A Pathogenic ★★ same type
- RAB3GAP1 p.Arg174Ter Pathogenic/Likely pathogenic ★★ same type
- RAB3GAP1 p.Arg187Ter Pathogenic ★★ same type
- RAB3GAP1 p.Arg231Ter Pathogenic ★★ same type
- RAB3GAP1 p.Arg337Ter Pathogenic/Likely pathogenic ★★ same type
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/rab3gap1-p-phe968 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown