Q514R (p.Gln514Arg) variant of SLC26A4 (Pendrin)
Q514R (p.Gln514Arg) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not specified; not provided; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q514R (p.Gln514Arg) variant details
- p.Gln514Arg
- rs111033316
- ClinGen CA261414
- ClinVar RCV000036445
- ClinVar RCV000320959
- Pathogenic
- not specified; not provided; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.93
- MetaSVM 1.06
- CADD 27.00
- ClinVar: Pathogenic (not specified; not provided; Autosomal recessive nonsyndromic he)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence… (PMID 15689455)
- Cited in: Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct… (PMID 19204907)