D669N (p.Asp669Asn) variant of SLC26A4 (Pendrin)
D669N (p.Asp669Asn) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4; not provided; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
D669N (p.Asp669Asn) variant details
- p.Asp669Asn
- rs777641484
- ClinGen CA4432996
- ClinVar RCV000670213
- ClinVar RCV003472122
- Pathogenic/Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4; not provided; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4; not provided; P)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)