S12P (p.Ser12Pro) variant of TRAF6 (TNF receptor-associated factor 6)
S12P (p.Ser12Pro) in TRAF6 (TNF receptor-associated factor 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- ExAC rs748986045
- TOPMed rs748986045
- gnomAD rs748986045
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.27
- MetaLR 0.33
- MetaSVM -0.72
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available