C51S (p.Cys51Ser) variant of ITGB4 (Integrin beta-4)
C51S (p.Cys51Ser) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
C51S (p.Cys51Ser) variant details
- p.Cys51Ser
- ExAC rs749736808
- TOPMed rs749736808
- gnomAD rs749736808
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.94
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available