L48M (p.Leu48Met) variant of ITGA6 (Integrin alpha-6)
L48M (p.Leu48Met) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L48M (p.Leu48Met) variant details
- p.Leu48Met
- gnomAD 2-172427930-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 16.80
- PolyPhen-2 0.14
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available