H22Y (p.His22Tyr) variant of VCL (Vinculin)
H22Y (p.His22Tyr) 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.
H22Y (p.His22Tyr) variant details
- p.His22Tyr
- TOPMed rs1215274479
- gnomAD rs1215274479
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.31
- CADD 26.60
- PolyPhen-2 0.74
- SIFT 0.01
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available