G102R (p.Gly102Arg) variant of SLC26A4 (Pendrin)
G102R (p.Gly102Arg) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G102R (p.Gly102Arg) variant details
- p.Gly102Arg
- rs1219724284
- ClinGen CA368845853
- ClinVar RCV003663105
- UniProt VAR 021643
- Pathogenic
- not specified; not provided; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.96
- CADD 35.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux… (PMID 11932316)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)