L21L (p.Leu21Leu) variant of COL4A3 (Collagen alpha-3(IV) chain)
L21L (p.Leu21Leu) in COL4A3 (Collagen alpha-3(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L21L (p.Leu21Leu) variant details
- p.Leu21Leu
- rs1036829250
- gnomAD 2-227164789-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 14.20
- Most common in the African/African-American population (allele frequency 0.00024)
- Structural context available
- Literature evidence available