L21V (p.Leu21Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
L21V (p.Leu21Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- gnomAD 2-227164787-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.23
- CADD 19.50
- PolyPhen-2 0.24
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available