V19L (p.Val19Leu) variant of COL4A3 (Collagen alpha-3(IV) chain)
V19L (p.Val19Leu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V19L (p.Val19Leu) variant details
- p.Val19Leu
- gnomAD 2-227164781-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.28
- CADD 4.31
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available