S46A (p.Ser46Ala) variant of TRAF6 (TNF receptor-associated factor 6)
S46A (p.Ser46Ala) in TRAF6 (TNF receptor-associated factor 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S46A (p.Ser46Ala) variant details
- p.Ser46Ala
- ExAC rs751488547
- TOPMed rs751488547
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.15
- MetaLR 0.32
- MetaSVM -0.85
- CADD 18.30
- PolyPhen-2 0.06
- SIFT 0.19
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available