L20F (p.Leu20Phe) variant of ITGA6 (Integrin alpha-6)
L20F (p.Leu20Phe) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L20F (p.Leu20Phe) variant details
- p.Leu20Phe
- gnomAD 2-172427846-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 18.60
- PolyPhen-2 0.20
- SIFT 0.73
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available