G67E (p.Gly67Glu) variant of PCDH15 (Protocadherin-15)
G67E (p.Gly67Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
G67E (p.Gly67Glu) variant details
- p.Gly67Glu
- rs930665715
- ClinGen CA207588273
- cosmic curated COSV10462
- ClinVar RCV001302225
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- MetaLR 0.22
- MetaSVM -0.74
- CADD 22.60
- PolyPhen-2 0.09
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.0044)
- 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)