R134G (p.Arg134Gly) variant of PCDH15 (Protocadherin-15)
R134G (p.Arg134Gly) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rare genetic deafness; Usher syndrome type 1F; Autosomal recessive nonsyndromic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
R134G (p.Arg134Gly) variant details
- p.Arg134Gly
- rs137853003
- ClinGen CA253346
- ClinVar RCV000005222
- ClinVar RCV000211736
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Usher syndrome type 1F; Autosomal recessive nonsyndromic
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- MetaLR 0.22
- MetaSVM -0.67
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Usher syndrome type 1F; Autosomal recessi)
- EBI: Pathogenic (in DFNB23)
- UniProt: Pathogenic (in DFNB23)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Cited in: PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F… (PMID 14570705)
- Cited in: Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. (PMID 18719945)