R5L (p.Arg5Leu) variant of ITGB4 (Integrin beta-4)
R5L (p.Arg5Leu) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- gnomAD 17-75724717-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0687
- REVEL 0.07
- CADD 1.00
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available