S37R (p.Ser37Arg) variant of ITGB4 (Integrin beta-4)
S37R (p.Ser37Arg) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S37R (p.Ser37Arg) variant details
- p.Ser37Arg
- gnomAD 17-75727226-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.79
- CADD 25.50
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available