A50S (p.Ala50Ser) variant of VCL (Vinculin)
A50S (p.Ala50Ser) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A50S (p.Ala50Ser) variant details
- p.Ala50Ser
- gnomAD 10-73998355-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.51
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available