D42Y (p.Asp42Tyr) variant of COL4A3 (Collagen alpha-3(IV) chain)
D42Y (p.Asp42Tyr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D42Y (p.Asp42Tyr) variant details
- p.Asp42Tyr
- gnomAD 2-227238004-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.39
- CADD 13.90
- PolyPhen-2 0.94
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available