M1R (p.Met1Arg) variant of SLC26A4 (Pendrin)
M1R (p.Met1Arg) 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; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs111033302
- ClinGen CA4432347
- ClinVar RCV003037249
- ClinVar RCV005406566
- Pathogenic/Likely pathogenic
- not provided; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- ESM-1b 1.00
- AlphaMissense 0.29
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pendred syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)