Q68H (p.Gln68His) variant of VCL (Vinculin)
Q68H (p.Gln68His) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q68H (p.Gln68His) variant details
- p.Gln68His
- gnomAD 10-74043118-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.07
- CADD 22.90
- PolyPhen-2 0.29
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available