L3L (p.Leu3Leu) variant of COL4A5 (Collagen alpha-5(IV) chain)
L3L (p.Leu3Leu) in COL4A5 (Collagen alpha-5(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L3L (p.Leu3Leu) variant details
- p.Leu3Leu
- rs763257714
- gnomAD X-108440134-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 13.30
- Most common in the Ashkenazi Jewish population (allele frequency 0.0001)
- Structural context available
- Literature evidence available