C41Y (p.Cys41Tyr) variant of COL4A3 (Collagen alpha-3(IV) chain)
C41Y (p.Cys41Tyr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
C41Y (p.Cys41Tyr) variant details
- p.Cys41Tyr
- gnomAD rs921708396
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.72
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available