G15A (p.Gly15Ala) variant of ITGA6 (Integrin alpha-6)
G15A (p.Gly15Ala) 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 0.40 / 1. The record also includes population frequency data and structural context.
G15A (p.Gly15Ala) variant details
- p.Gly15Ala
- TOPMed rs1257432098
- gnomAD rs1257432098
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.52
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available