G34C (p.Gly34Cys) variant of VCL (Vinculin)
G34C (p.Gly34Cys) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G34C (p.Gly34Cys) variant details
- p.Gly34Cys
- gnomAD 10-73998307-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.56
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available