L79S (p.Leu79Ser) variant of COL4A4 (Collagen alpha-4(IV) chain)
L79S (p.Leu79Ser) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
L79S (p.Leu79Ser) variant details
- p.Leu79Ser
- gnomAD 2-227010314-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0406
- CADD 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available