L17L (p.Leu17Leu) variant of COL4A5 (Collagen alpha-5(IV) chain)
L17L (p.Leu17Leu) in COL4A5 (Collagen alpha-5(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L17L (p.Leu17Leu) variant details
- p.Leu17Leu
- gnomAD X-108440174-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 14.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available