Q421R (p.Gln421Arg) variant of SLC26A4 (Pendrin)
Q421R (p.Gln421Arg) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
Q421R (p.Gln421Arg) variant details
- p.Gln421Arg
- rs201660407
- ClinGen CA4432734
- ClinVar RCV000494508
- ClinVar RCV000673206
- Uncertain significance
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.88
- MetaSVM 0.98
- CADD 33.00
- ClinVar: Uncertain significance (Pendred syndrome)
- EBI: Pathogenic (in PDS/DFNB4)
- UniProt: Pathogenic (in PDS/DFNB4)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the… (PMID 14679580)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)