A411P (p.Ala411Pro) variant of SLC26A4 (Pendrin)
A411P (p.Ala411Pro) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Rare genetic deafness; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A411P (p.Ala411Pro) variant details
- p.Ala411Pro
- rs1293971731
- ClinGen CA368839274
- ClinVar RCV000603987
- ClinVar RCV001868006
- Pathogenic/Likely pathogenic
- not provided; Rare genetic deafness; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.95
- CADD 28.30
- ClinVar: Pathogenic/Likely pathogenic (not provided; Rare genetic deafness; Pendred syndrome)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Clinical and molecular analysis of three Mexican families with Pendred's syndrome. (PMID 11375792)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)