Q421P (p.Gln421Pro) variant of SLC26A4 (Pendrin)
Q421P (p.Gln421Pro) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q421P (p.Gln421Pro) variant details
- p.Gln421Pro
- rs201660407
- ClinGen CA368839337
- ClinVar RCV000672119
- ClinVar RCV000770862
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.88
- MetaSVM 0.98
- CADD 33.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 4; P)
- EBI: Pathogenic (in PDS/DFNB4)
- UniProt: Pathogenic (in PDS/DFNB4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)