C125F (p.Cys125Phe) variant of TYK2 (P29597)
C125F (p.Cys125Phe) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
C125F (p.Cys125Phe) variant details
- p.Cys125Phe
- Ensembl rs2145273488
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.20
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available