M21I (p.Met21Ile) variant of PPM1D (Protein phosphatase 1D)
M21I (p.Met21Ile) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
M21I (p.Met21Ile) variant details
- p.Met21Ile
- gnomAD 17-60600477-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.29
- MetaLR 0.08
- MetaSVM -1.14
- CADD 29.50
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available