K80K (p.Lys80Lys) variant of VCL (Vinculin)
K80K (p.Lys80Lys) in VCL (Vinculin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K80K (p.Lys80Lys) variant details
- p.Lys80Lys
- rs1841649559
- gnomAD 10-74070670-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 15.60
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available