N457I (p.Asn457Ile) variant of SLC26A4 (Pendrin)
N457I (p.Asn457Ile) 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; Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
N457I (p.Asn457Ile) variant details
- p.Asn457Ile
- rs1482605370
- ClinGen CA368840604
- ClinVar RCV003472880
- ClinVar RCV003553967
- Pathogenic/Likely pathogenic
- not provided; Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pendred syndrome; Autosomal recessive nonsyndromic)
- EBI: Pathogenic (in DFNB4)
- UniProt: Pathogenic (in DFNB4)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)