A23S (p.Ala23Ser) variant of ITGA6 (Integrin alpha-6)
A23S (p.Ala23Ser) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- gnomAD 2-172427855-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 23.50
- PolyPhen-2 0.44
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available