S12F (p.Ser12Phe) variant of TRAF6 (TNF receptor-associated factor 6)
S12F (p.Ser12Phe) in TRAF6 (TNF receptor-associated factor 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S12F (p.Ser12Phe) variant details
- p.Ser12Phe
- Ensembl rs17852887
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.28
- MetaLR 0.41
- MetaSVM -0.08
- CADD 22.80
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available