RABL6 p.Asp112=
c.336C>T · VCV4905823
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.243%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.168 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP -9.3 | GERP -2.4 |
| Overall | ||
| CADD | 1.334 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.243%
Middle Eastern · 14/5,764 alleles
Filtering AF
0.147%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.118%
Overall
0.00391%
63/1,613,304 alleles · rare
exomes 60/1,460,960 · genomes 3/152,344 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.243% | 412 |
| African / African-American | 0.016% | 6,253 |
| Remaining individualsnot grpmax-eligible | 0.0128% | 7,805 |
| Admixed American | 0.00666% | 15,004 |
| East Asian | 0.00446% | 22,444 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,592 |
| European (non-Finnish) | 0.00178% | 56,180 |
| South Asian | 0.0011% | 91,064 |
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
- RABL6
- Protein
- p.Asp112=
- Coding
- c.336C>T
- MANE Select
- NM_024718
- Type
- single nucleotide variant
- Location
- chr9:136828516 (GRCh38)
- Gene constraint
- LOEUF 0.588 · pLI 0.15 (gnomAD)
- Structure
- AlphaFold pLDDT 60.84
- Residue 112
- the 'small gtpase-like' region
Similar variants
- RABL6 p.Arg690Gln Uncertain significance ★★ ⚠ same type
- RABL6 p.Ser402Thr Uncertain significance ★★ ⚠ same type
- RABL6 p.Ser535Gly Uncertain significance ★★ ⚠ same type
- RABL6 p.Arg280His Benign/Likely benign ★★ same type
- RABL6 p.Arg533His Benign ★★ same type
- RABL6 p.Pro518Leu Benign ★★ same type
- RABL6 p.Pro539= Benign ★★ same type
- RABL6 p.Pro557= Benign/Likely benign ★★ 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/rabl6-p-asp112 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown