G30D (p.Gly30Asp) variant of VCL (Vinculin)
G30D (p.Gly30Asp) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- gnomAD 10-73998296-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.39
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available