R125C (p.Arg125Cys) variant of TRAF6 (TNF receptor-associated factor 6)
R125C (p.Arg125Cys) in TRAF6 (TNF receptor-associated factor 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R125C (p.Arg125Cys) variant details
- p.Arg125Cys
- cosmic curated COSV61922
- gnomAD rs945331121
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.81
- MetaLR 0.81
- MetaSVM 0.82
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available