R24G (p.Arg24Gly) variant of SLC26A4 (Pendrin)
R24G (p.Arg24Gly) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- rs1268256689
- UniProt VAR 021638
- gnomAD rs1268256689
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.90
- MetaSVM 0.97
- CADD 26.80
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4)
- EBI: Benign (in PDS/DFNB4)
- UniProt: Benign (in PDS/DFNB4)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the… (PMID 14679580)