L55L (p.Leu55Leu) variant of COL4A5 (Collagen alpha-5(IV) chain)
L55L (p.Leu55Leu) in COL4A5 (Collagen alpha-5(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L55L (p.Leu55Leu) variant details
- p.Leu55Leu
- gnomAD X-108559087-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 9.34
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available