R60S (p.Arg60Ser) variant of ITGB4 (Integrin beta-4)
R60S (p.Arg60Ser) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R60S (p.Arg60Ser) variant details
- p.Arg60Ser
- TOPMed rs550392338
- gnomAD rs550392338
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.89
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available