C30Y (p.Cys30Tyr) variant of ITGB4 (Integrin beta-4)
C30Y (p.Cys30Tyr) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
C30Y (p.Cys30Tyr) variant details
- p.Cys30Tyr
- TOPMed rs2060736949
- gnomAD rs2060736949
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.86
- CADD 26.90
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available