T34P (p.Thr34Pro) variant of PPM1D (Protein phosphatase 1D)
T34P (p.Thr34Pro) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T34P (p.Thr34Pro) variant details
- p.Thr34Pro
- gnomAD 17-60600514-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.06
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available