V29L (p.Val29Leu) variant of PPM1D (Protein phosphatase 1D)
V29L (p.Val29Leu) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V29L (p.Val29Leu) variant details
- p.Val29Leu
- gnomAD 17-60600499-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.10
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available