P23L (p.Pro23Leu) variant of COL4A4 (Collagen alpha-4(IV) chain)
P23L (p.Pro23Leu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs1343679990
- gnomAD 2-227010401-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.089
- CADD 6.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available