RAB14 p.Ala153=
c.459G>A · rs140790437 · VCV771735
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.301%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>A here scores Δ0.23 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.3 | GERP -1.3, phastCons 1 |
| Overall | ||
| CADD | 9.328 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.301%
Middle Eastern · 18/5,972 alleles
Filtering AF
0.229%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.226%
Overall
0.195%
3,126/1,606,444 alleles · rare
exomes 2,918/1,454,240 · genomes 208/152,204 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.301% | 332 |
| European (non-Finnish) | 0.236% | 423 |
| Finnishnot grpmax-eligible | 0.163% | 614 |
| Remaining individualsnot grpmax-eligible | 0.158% | 634 |
| Ashkenazi Jewishnot grpmax-eligible | 0.105% | 949 |
| Admixed American | 0.0804% | 1,244 |
| African / African-American | 0.0654% | 1,528 |
| South Asian | 0.00444% | 22,532 |
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
- RAB14
- Protein
- p.Ala153=
- Coding
- c.459G>A
- MANE Select
- NM_016322
- dbSNP
- rs140790437
- Type
- single nucleotide variant
- Location
- chr9:121182941 (GRCh38)
- Gene constraint
- LOEUF 0.224 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 85.58 · 3 PDB
Similar variants
- RAB14 p.Ala126Thr Uncertain significance ★ ⚠ same type
- RAB14 p.Ala75Ser Uncertain significance ★ ⚠ same type
- RAB14 p.Arg201Gln Uncertain significance ★ ⚠ same type
- RAB14 p.Cys215Ser Uncertain significance ★ ⚠ same type
- RAB14 p.Gln63His Uncertain significance ★ ⚠ same type
- RAB14 p.Pro197Leu Uncertain significance ★ ⚠ same type
- RAB14 p.Thr203Ile Uncertain significance ★ ⚠ same type
- RAB14 p.Thr67Met Uncertain significance ★ ⚠ 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/rab14-p-ala153 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown