L7P (p.Leu7Pro) variant of PPM1D (Protein phosphatase 1D)
L7P (p.Leu7Pro) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- gnomAD 17-60600434-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.18
- MetaLR 0.06
- MetaSVM -1.15
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available