A123V (p.Ala123Val) variant of TRAF6 (TNF receptor-associated factor 6)
A123V (p.Ala123Val) in TRAF6 (TNF receptor-associated factor 6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A123V (p.Ala123Val) variant details
- p.Ala123Val
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10077
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.54
- MetaLR 0.47
- MetaSVM -0.05
- CADD 24.60
- PolyPhen-2 0.06
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available