Q68K (p.Gln68Lys) variant of VCL (Vinculin)
Q68K (p.Gln68Lys) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q68K (p.Gln68Lys) variant details
- p.Gln68Lys
- gnomAD 10-74043116-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.20
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available