L48P (p.Leu48Pro) variant of ITGA6 (Integrin alpha-6)
L48P (p.Leu48Pro) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- gnomAD 2-172427931-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 28.40
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available