T34K (p.Thr34Lys) variant of PPM1D (Protein phosphatase 1D)
T34K (p.Thr34Lys) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T34K (p.Thr34Lys) variant details
- p.Thr34Lys
- gnomAD 17-60600515-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.03
- AlphaMissense 0.11
- MetaLR 0.48
- MetaSVM -0.05
- CADD 15.90
- PolyPhen-2 0.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available