Q413R (p.Gln413Arg) variant of SLC26A4 (Pendrin)
Q413R (p.Gln413Arg) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q413R (p.Gln413Arg) variant details
- p.Gln413Arg
- rs142498437
- ClinGen CA4432728
- ClinVar RCV000411469
- ClinVar RCV001216381
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.87
- MetaSVM 0.93
- CADD 26.70
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 4; P)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)