K38Q (p.Lys38Gln) variant of PPM1D (Protein phosphatase 1D)
K38Q (p.Lys38Gln) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
K38Q (p.Lys38Gln) variant details
- p.Lys38Gln
- rs1487466505
- ClinGen CA400452640
- ClinVar RCV003823576
- ClinVar RCV004953562
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.02
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.06
- CADD 18.90
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 5.5e-05)
- 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)