D14N (p.Asp14Asn) variant of PPM1D (Protein phosphatase 1D)
D14N (p.Asp14Asn) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D14N (p.Asp14Asn) variant details
- p.Asp14Asn
- gnomAD 17-60600454-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.20
- MetaLR 0.06
- MetaSVM -1.17
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available