Q446R (p.Gln446Arg) variant of SLC26A4 (Pendrin)
Q446R (p.Gln446Arg) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Q446R (p.Gln446Arg) variant details
- p.Gln446Arg
- rs768471577
- ClinGen CA4432777
- ClinVar RCV000665266
- ClinVar RCV001227582
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 4; P)
- EBI: Pathogenic (in DFNB4 and PDS)
- UniProt: Pathogenic (in DFNB4 and PDS)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. (PMID 10700480)
- Cited in: Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux… (PMID 11932316)