RAB11B p.Phe142=
c.426C>T · rs146353208 · VCV1565210
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0436%, 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 -11 | GERP -4.1 |
| Overall | ||
| CADD | 0.427 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0436%
African / African-American · 32/73,386 alleles
Filtering AF
0.0317%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0277%
Overall
0.00328%
51/1,554,304 alleles · ultra-rare
exomes 25/1,401,902 · genomes 26/152,402 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0436% | 2,293 |
| Admixed American | 0.0156% | 6,412 |
| Remaining individualsnot grpmax-eligible | 0.00498% | 20,091 |
| South Asian | 0.00353% | 28,329 |
| European (non-Finnish) | 0.000435% | 229,852 |
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
- RAB11B
- Protein
- p.Phe142=
- Coding
- c.426C>T
- MANE Select
- NM_004218
- dbSNP
- rs146353208
- Type
- single nucleotide variant
- Location
- chr19:8402275 (GRCh38)
- Gene constraint
- LOEUF 0.657 · pLI 0.67 (gnomAD)
- Structure
- AlphaFold pLDDT 86.14 · 3 PDB
- Residue 142
- an α-helix
Similar variants
- RAB11B p.Phe142Tyr Uncertain significance ★★ same residue
- RAB11B p.Ala68Thr Pathogenic/Likely pathogenic ★★ same type
- RAB11B p.Val22Met Pathogenic/Likely pathogenic ★★ same type
- RAB11B p.Ala139Thr Uncertain significance ★★ ⚠ same type
- RAB11B p.Arg140Cys Uncertain significance ★★ ⚠ same type
- RAB11B p.Asp5Glu Uncertain significance ★★ ⚠ same type
- RAB11B p.Gly57Ser Uncertain significance ★★ ⚠ same type
- RAB11B p.Leu212Pro 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/rab11b-p-phe142 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown