R3Q (p.Arg3Gln) variant of PCDH15 (Protocadherin-15)
R3Q (p.Arg3Gln) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Usher syndrome type 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and published literature.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- rs372085398
- ClinGen CA5506911
- cosmic curated COSV10022
- ClinVar RCV001103249
- Conflicting interpretations
- not provided; Usher syndrome type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- MetaLR 0.06
- MetaSVM -1.05
- CADD 0.37
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Usher syndrome type 1; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- 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)