R24Q (p.Arg24Gln) variant of SLC26A4 (Pendrin)
R24Q (p.Arg24Gln) in SLC26A4 (Pendrin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in PDS/DFNB4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- cosmic curated COSV99707
- TOPMed rs1349370504
- gnomAD rs1349370504
- Likely pathogenic
- in PDS/DFNB4
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.90
- MetaSVM 1.00
- CADD 31.00
- EBI: Likely pathogenic (in PDS/DFNB4)
- UniProt: Likely pathogenic (in PDS/DFNB4)
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available