A3S (p.Ala3Ser) variant of ITGA6 (Integrin alpha-6)
A3S (p.Ala3Ser) in ITGA6 (Integrin alpha-6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD rs1454318766
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 22.10
- PolyPhen-2 0.14
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available