E49G (p.Glu49Gly) variant of PCDH15 (Protocadherin-15)
E49G (p.Glu49Gly) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Usher syndrome type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
E49G (p.Glu49Gly) variant details
- p.Glu49Gly
- rs184026653
- ClinGen CA5506788
- ClinVar RCV001108430
- ClinVar RCV001279012
- Conflicting interpretations
- Usher syndrome type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- MetaLR 0.13
- MetaSVM -0.72
- CADD 26.90
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Usher syndrome type 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)