P33L (p.Pro33Leu) variant of PPM1D (Protein phosphatase 1D)
P33L (p.Pro33Leu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- gnomAD rs866963714
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.04
- CADD 8.29
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 5.4e-05)
- Structural context available