T28N (p.Thr28Asn) variant of ITGA6 (Integrin alpha-6)
T28N (p.Thr28Asn) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
T28N (p.Thr28Asn) variant details
- p.Thr28Asn
- gnomAD 2-172427871-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- CADD 24.40
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available