R60C (p.Arg60Cys) variant of ITGB4 (Integrin beta-4)
R60C (p.Arg60Cys) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
R60C (p.Arg60Cys) variant details
- p.Arg60Cys
- rs550392338
- ClinGen CA401038245
- ClinVar RCV003560024
- TOPMed rs550392338
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.90
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available