L79M (p.Leu79Met) variant of COL4A4 (Collagen alpha-4(IV) chain)
L79M (p.Leu79Met) 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.
L79M (p.Leu79Met) variant details
- p.Leu79Met
- ExAC rs764905079
- gnomAD rs764905079
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.22
- CADD 22.70
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available