S46C (p.Ser46Cys) variant of TRAF6 (TNF receptor-associated factor 6)
S46C (p.Ser46Cys) in TRAF6 (TNF receptor-associated factor 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S46C (p.Ser46Cys) variant details
- p.Ser46Cys
- TOPMed rs1294385877
- gnomAD rs1294385877
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.27
- MetaLR 0.51
- MetaSVM 0.14
- CADD 24.40
- PolyPhen-2 0.64
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available