H22Q (p.His22Gln) variant of VCL (Vinculin)
H22Q (p.His22Gln) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H22Q (p.His22Gln) variant details
- p.His22Gln
- gnomAD rs1297753845
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.26
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.35
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available