Q92E (p.Gln92Glu) variant of PCDH15 (Protocadherin-15)
Q92E (p.Gln92Glu) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
Q92E (p.Gln92Glu) variant details
- p.Gln92Glu
- rs143842048
- ClinGen CA5506750
- ClinVar RCV002645116
- ESP rs143842048
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- MetaLR 0.27
- MetaSVM -0.64
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)