H27Y (p.His27Tyr) variant of VCL (Vinculin)
H27Y (p.His27Tyr) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
H27Y (p.His27Tyr) variant details
- p.His27Tyr
- TOPMed rs1486411009
- gnomAD rs1486411009
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.36
- AlphaMissense 0.97
- MetaLR 0.26
- MetaSVM -0.23
- CADD 27.50
- PolyPhen-2 0.98
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available