G197R (p.Gly197Arg) variant of SLC26A4 (Pendrin)
G197R (p.Gly197Arg) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G197R (p.Gly197Arg) variant details
- p.Gly197Arg
- rs111033380
- ClinGen CA261433
- ClinVar RCV000036500
- ClinVar RCV000770858
- Pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 4; P)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)