G45C (p.Gly45Cys) variant of ITGA6 (Integrin alpha-6)
G45C (p.Gly45Cys) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G45C (p.Gly45Cys) variant details
- p.Gly45Cys
- gnomAD 2-172427921-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available