R59W (p.Arg59Trp) variant of ITGB4 (Integrin beta-4)
R59W (p.Arg59Trp) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R59W (p.Arg59Trp) variant details
- p.Arg59Trp
- rs544136973
- ClinGen CA8768592
- ClinVar RCV003739683
- ExAC rs544136973
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.39
- CADD 23.10
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available