K715N (p.Lys715Asn) variant of SLC26A4 (Pendrin)
K715N (p.Lys715Asn) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K715N (p.Lys715Asn) variant details
- p.Lys715Asn
- rs397516427
- ClinGen CA261425
- ClinVar RCV000036476
- ClinVar RCV000585409
- Likely pathogenic
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.48
- CADD 18.10
- PolyPhen-2 0.04
- SIFT 0.18
- ClinVar: Likely pathogenic (Pendred syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)