G439R (p.Gly439Arg) variant of SLC26A4 (Pendrin)
G439R (p.Gly439Arg) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G439R (p.Gly439Arg) variant details
- p.Gly439Arg
- rs746046215
- ClinGen CA4432774
- ClinVar RCV003555360
- ClinVar RCV004527460
- Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 4; P)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)