R4L (p.Arg4Leu) variant of COL4A3 (Collagen alpha-3(IV) chain)
R4L (p.Arg4Leu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- gnomAD 2-227164737-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.14
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available