H723D (p.His723Asp) variant of SLC26A4 (Pendrin)
H723D (p.His723Asp) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
H723D (p.His723Asp) variant details
- p.His723Asp
- rs1417146153
- ClinGen CA368845871
- ClinVar RCV001221275
- ClinVar RCV001375680
- Pathogenic
- not provided; Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Pendred syndrome; Autosomal recessive nonsyndromic)
- EBI: Pathogenic (in DFNB4 and PDS)
- UniProt: Pathogenic (in DFNB4 and PDS)
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)