R185T (p.Arg185Thr) variant of SLC26A4 (Pendrin)
R185T (p.Arg185Thr) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pendred syndrome. 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.
R185T (p.Arg185Thr) variant details
- p.Arg185Thr
- rs542620119
- ClinGen CA274070
- ClinVar RCV000169232
- ClinVar RCV000214962
- Likely pathogenic
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Pendred syndrome)
- EBI: Pathogenic (in DFNB4)
- UniProt: Pathogenic (in DFNB4)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged… (PMID 20597900)
- Cited in: Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. (PMID 24051746)