A27T (p.Ala27Thr) variant of ITGB4 (Integrin beta-4)
A27T (p.Ala27Thr) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- gnomAD 17-75724782-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.24
- CADD 32.00
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available