M1I (p.Met1Ile) variant of SLC26A4 (Pendrin)
M1I (p.Met1Ile) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Pendred syndrome. 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.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs786204426
- ClinGen CA273884
- ClinVar RCV000169018
- ClinVar RCV000579019
- Pathogenic
- not provided; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- ESM-1b 1.00
- AlphaMissense 0.44
- ClinVar: Pathogenic (Autosomal recessive nonsyndromic hearing loss 4)
- 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)