R167H (p.Arg167His) variant of TRAF6 (TNF receptor-associated factor 6)
R167H (p.Arg167His) in TRAF6 (TNF receptor-associated factor 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R167H (p.Arg167His) variant details
- p.Arg167His
- cosmic curated COSV61922
- TOPMed rs577802750
- gnomAD rs577802750
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.04
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available