P263Q (p.Pro263Gln) variant of PCDH15 (Protocadherin-15)
P263Q (p.Pro263Gln) 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 Autosomal recessive nonsyndromic hearing loss 23; Hearing loss, autosomal recess. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
P263Q (p.Pro263Gln) variant details
- p.Pro263Gln
- rs1564949059
- ClinGen CA376540937
- ClinVar RCV000681533
- ClinVar RCV001291231
- Pathogenic/Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 23; Hearing loss, autosomal recess
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 23; Hearing loss,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)