K38S (p.Lys38Ser) variant of PPM1D (Protein phosphatase 1D)
K38S (p.Lys38Ser) in PPM1D (Protein phosphatase 1D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
K38S (p.Lys38Ser) variant details
- p.Lys38Ser
- gnomAD 17-60600523-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 25.50
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available