A45G (p.Ala45Gly) variant of VCL (Vinculin)
A45G (p.Ala45Gly) in VCL (Vinculin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A45G (p.Ala45Gly) variant details
- p.Ala45Gly
- gnomAD 10-73998339-GGCCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available