L20V (p.Leu20Val) variant of ITGA6 (Integrin alpha-6)
L20V (p.Leu20Val) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- gnomAD 2-172427846-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 22.50
- PolyPhen-2 0.79
- SIFT 0.51
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available