I127V (p.Ile127Val) variant of TRAF6 (TNF receptor-associated factor 6)
I127V (p.Ile127Val) in TRAF6 (TNF receptor-associated factor 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
I127V (p.Ile127Val) variant details
- p.Ile127Val
- ExAC rs781247915
- gnomAD rs781247915
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.32
- MetaLR 0.45
- MetaSVM -0.37
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.13
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available