S37C (p.Ser37Cys) variant of ITGB4 (Integrin beta-4)
S37C (p.Ser37Cys) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S37C (p.Ser37Cys) variant details
- p.Ser37Cys
- gnomAD 17-75727224-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.92
- CADD 26.80
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available