L79V (p.Leu79Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
L79V (p.Leu79Val) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L79V (p.Leu79Val) variant details
- p.Leu79Val
- ExAC rs764905079
- gnomAD rs764905079
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.20
- CADD 22.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available