L19W (p.Leu19Trp) variant of COL4A4 (Collagen alpha-4(IV) chain)
L19W (p.Leu19Trp) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L19W (p.Leu19Trp) variant details
- p.Leu19Trp
- gnomAD rs1237383434
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.37
- CADD 12.40
- PolyPhen-2 0.26
- SIFT 0.09
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available