P38H (p.Pro38His) variant of VCL (Vinculin)
P38H (p.Pro38His) 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.
P38H (p.Pro38His) variant details
- p.Pro38His
- gnomAD 10-73998320-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.51
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available