I27V (p.Ile27Val) variant of PPM1D (Protein phosphatase 1D)
I27V (p.Ile27Val) 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.
I27V (p.Ile27Val) variant details
- p.Ile27Val
- gnomAD 17-60600493-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -0.97
- CADD 20.40
- PolyPhen-2 0.10
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available