RABL6 p.Pro716=
c.2148G>A · VCV4905841
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.293%, eas)
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 -15 | GERP -1.6 |
| Overall | ||
| CADD | 0.147 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.293%
East Asian · 119/40,644 alleles
Filtering AF
0.25%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.234%
Overall
0.0258%
394/1,526,968 alleles · rare
exomes 295/1,374,770 · genomes 99/152,198 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.293% | 342 |
| African / African-American | 0.159% | 628 |
| South Asian | 0.0565% | 1,770 |
| Remaining individualsnot grpmax-eligible | 0.0561% | 1,784 |
| Admixed American | 0.0309% | 3,240 |
| European (non-Finnish) | 0.00571% | 17,521 |
| Finnishnot grpmax-eligible | 0.00526% | 19,015 |
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.Pro716=
- Coding
- c.2148G>A
- MANE Select
- NM_024718
- Type
- single nucleotide variant
- Location
- chr9:136840480 (GRCh38)
- Gene constraint
- LOEUF 0.588 · pLI 0.15 (gnomAD)
- Structure
- AlphaFold pLDDT 60.84
- Residue 716
- 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-pro716 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown