P46L (p.Pro46Leu) variant of COL4A4 (Collagen alpha-4(IV) chain)
P46L (p.Pro46Leu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P46L (p.Pro46Leu) variant details
- p.Pro46Leu
- rs1247246118
- gnomAD 2-227010380-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- CADD 9.84
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available