C39Y (p.Cys39Tyr) variant of COL4A3 (Collagen alpha-3(IV) chain)
C39Y (p.Cys39Tyr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
C39Y (p.Cys39Tyr) variant details
- p.Cys39Tyr
- TOPMed rs2068792091
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.64
- CADD 25.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available