P41L (p.Pro41Leu) variant of PPM1D (Protein phosphatase 1D)
P41L (p.Pro41Leu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- 1000Genomes rs552338842
- ExAC rs552338842
- gnomAD rs552338842
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.04
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available