R59P (p.Arg59Pro) variant of ITGB4 (Integrin beta-4)
R59P (p.Arg59Pro) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R59P (p.Arg59Pro) variant details
- p.Arg59Pro
- 1000Genomes rs201532846
- ExAC rs201532846
- TOPMed rs201532846
- gnomAD rs201532846
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.26
- CADD 14.80
- PolyPhen-2 0.02
- SIFT 0.59
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available