R57G (p.Arg57Gly) variant of ITGB4 (Integrin beta-4)
R57G (p.Arg57Gly) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R57G (p.Arg57Gly) variant details
- p.Arg57Gly
- gnomAD 17-75727410-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.33
- CADD 19.00
- PolyPhen-2 0.03
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available