K38N (p.Lys38Asn) variant of PPM1D (Protein phosphatase 1D)
K38N (p.Lys38Asn) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
K38N (p.Lys38Asn) variant details
- p.Lys38Asn
- gnomAD 17-60600528-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.01
- MetaLR 0.06
- MetaSVM -1.06
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available