L19L (p.Leu19Leu) variant of COL4A5 (Collagen alpha-5(IV) chain)
L19L (p.Leu19Leu) in COL4A5 (Collagen alpha-5(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- rs766114864
- gnomAD X-108440182-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 13.70
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available