M1T (p.Met1Thr) variant of SLC26A4 (Pendrin)
M1T (p.Met1Thr) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rare genetic deafness; Monogenic hearing loss; SLC26A4-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs111033302
- ClinGen CA261430
- ClinVar RCV000036489
- ClinVar RCV000797012
- Pathogenic
- Rare genetic deafness; Monogenic hearing loss; SLC26A4-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- ESM-1b 1.00
- AlphaMissense 0.43
- ClinVar: Pathogenic (Rare genetic deafness; Monogenic hearing loss; SLC26A4-related d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)