K38E (p.Lys38Glu) variant of PPM1D (Protein phosphatase 1D)
K38E (p.Lys38Glu) in PPM1D (Protein phosphatase 1D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
K38E (p.Lys38Glu) variant details
- p.Lys38Glu
- rs1487466505
- ClinGen CA400452641
- ClinVar RCV003712883
- ClinVar RCV005264491
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.06
- PolyPhen-2 0.00
- SIFT 0.39
- MutPred 0.22
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)