RABL6 p.Asp412=
c.1236C>T · rs112178344 · VCV787352
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.75%, 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 -20 | GERP -2 |
| Overall | ||
| CADD | 0.032 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.75%
African / African-American · 1,295/73,846 alleles
Filtering AF
1.67%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.64%
Overall
0.0943%
1,480/1,569,424 alleles · low-frequency
exomes 676/1,417,118 · genomes 804/152,306 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.75% | 57 |
| Admixed American | 0.137% | 732 |
| Remaining individualsnot grpmax-eligible | 0.108% | 922 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0312% | 3,208 |
| Middle Eastern | 0.0168% | 5,938 |
| East Asian | 0.00709% | 14,103 |
| South Asian | 0.00352% | 28,421 |
| European (non-Finnish) | 0.00259% | 38,604 |
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.Asp412=
- Coding
- c.1236C>T
- MANE Select
- NM_024718
- dbSNP
- rs112178344
- Type
- single nucleotide variant
- Location
- chr9:136837971 (GRCh38)
- Gene constraint
- LOEUF 0.588 · pLI 0.15 (gnomAD)
- Structure
- AlphaFold pLDDT 60.84
- Residue 412
- the 'disordered' 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-asp412 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown