P31R (p.Pro31Arg) variant of PPM1D (Protein phosphatase 1D)
P31R (p.Pro31Arg) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P31R (p.Pro31Arg) variant details
- p.Pro31Arg
- gnomAD 17-60600506-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.15
- AlphaMissense 0.05
- MetaLR 0.23
- MetaSVM -0.76
- CADD 23.70
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available