M21L (p.Met21Leu) variant of PPM1D (Protein phosphatase 1D)
M21L (p.Met21Leu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
M21L (p.Met21Leu) variant details
- p.Met21Leu
- gnomAD 17-60600475-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.28
- MetaLR 0.07
- MetaSVM -1.15
- CADD 28.30
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available