T410M (p.Thr410Met) variant of SLC26A4 (Pendrin)
T410M (p.Thr410Met) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
T410M (p.Thr410Met) variant details
- p.Thr410Met
- rs111033220
- ClinGen CA261403
- cosmic curated COSV55915
- ClinVar RCV000036430
- Pathogenic
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.93
- MetaSVM 1.07
- CADD 25.20
- ClinVar: Pathogenic (Pendred syndrome)
- EBI: Pathogenic (in DFNB4 and PDS)
- UniProt: Pathogenic (in DFNB4 and PDS)
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. (PMID 10700480)
- Cited in: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. (PMID 11748854)