R43P (p.Arg43Pro) variant of ITGB4 (Integrin beta-4)
R43P (p.Arg43Pro) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R43P (p.Arg43Pro) variant details
- p.Arg43Pro
- ExAC rs778748791
- gnomAD rs778748791
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.79
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available