S129C (p.Ser129Cys) variant of TRAF6 (TNF receptor-associated factor 6)
S129C (p.Ser129Cys) in TRAF6 (TNF receptor-associated factor 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S129C (p.Ser129Cys) variant details
- p.Ser129Cys
- gnomAD rs1255863441
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.34
- MetaLR 0.22
- MetaSVM -0.54
- CADD 27.60
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available