L54P (p.Leu54Pro) variant of ITGA6 (Integrin alpha-6)
L54P (p.Leu54Pro) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L54P (p.Leu54Pro) variant details
- p.Leu54Pro
- gnomAD 2-172427949-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available