L14L (p.Leu14Leu) variant of COL4A5 (Collagen alpha-5(IV) chain)
L14L (p.Leu14Leu) in COL4A5 (Collagen alpha-5(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- rs760570519
- gnomAD X-108440165-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 14.80
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available