C20Y (p.Cys20Tyr) variant of TRAF6 (TNF receptor-associated factor 6)
C20Y (p.Cys20Tyr) in TRAF6 (TNF receptor-associated factor 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
C20Y (p.Cys20Tyr) variant details
- p.Cys20Tyr
- rs1314159296
- ClinGen CA380149049
- ClinVar RCV004321734
- TOPMed rs1314159296
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.56
- MetaLR 0.72
- MetaSVM 0.52
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available