V33M (p.Val33Met) variant of FH (P07954)
V33M (p.Val33Met) in FH (P07954) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V33M (p.Val33Met) variant details
- p.Val33Met
- ExAC rs765041223
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.33
- CADD 1.20
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available