Y50C (p.Tyr50Cys) variant of ITGB4 (Integrin beta-4)
Y50C (p.Tyr50Cys) in ITGB4 (Integrin beta-4) 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.
Y50C (p.Tyr50Cys) variant details
- p.Tyr50Cys
- gnomAD 17-75727264-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.90
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available