A411T (p.Ala411Thr) variant of SLC26A4 (Pendrin)
A411T (p.Ala411Thr) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
A411T (p.Ala411Thr) variant details
- p.Ala411Thr
- rs1293971731
- ClinGen CA368839273
- ClinVar RCV002469978
- ClinVar RCV005098447
- Likely pathogenic
- not provided; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.17
- ClinVar: Likely pathogenic (not provided; Pendred syndrome)
- EBI: Likely pathogenic (in PDS)
- UniProt: Likely pathogenic (in PDS)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)