L54L (p.Leu54Leu) variant of ITGA6 (Integrin alpha-6)
L54L (p.Leu54Leu) in ITGA6 (Integrin alpha-6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L54L (p.Leu54Leu) variant details
- p.Leu54Leu
- rs1683924617
- gnomAD 2-172427950-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 17.80
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available