C102Y (p.Cys102Tyr) variant of CHM (P24386)
C102Y (p.Cys102Tyr) in CHM (P24386) 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.
C102Y (p.Cys102Tyr) variant details
- p.Cys102Tyr
- TOPMed rs1931430744
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.49
- MetaLR 0.52
- MetaSVM -0.07
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available