L21R (p.Leu21Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
L21R (p.Leu21Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L21R (p.Leu21Arg) variant details
- p.Leu21Arg
- gnomAD 2-227164788-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.49
- CADD 23.20
- PolyPhen-2 0.61
- SIFT 0.20
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available