N392Y (p.Asn392Tyr) variant of SLC26A4 (Pendrin)
N392Y (p.Asn392Tyr) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4; not provided. 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.
N392Y (p.Asn392Tyr) variant details
- p.Asn392Tyr
- rs201562855
- ClinGen CA4432714
- ClinVar RCV000515717
- ClinVar RCV000657916
- Pathogenic
- Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Pendred syndrome; Autosomal recessive nonsyndromic hearing loss)
- EBI: Pathogenic (in DFNB4)
- UniProt: Pathogenic (in DFNB4)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology… (PMID 12676893)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)