T721M (p.Thr721Met) variant of SLC26A4 (Pendrin)
T721M (p.Thr721Met) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; Rare genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T721M (p.Thr721Met) variant details
- p.Thr721Met
- rs121908363
- ClinGen CA253308
- NCI-TCGA Cosmic COSV5592
- cosmic curated COSV55920
- Pathogenic/Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; Rare genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.44
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrom)
- 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: Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. (PMID 10190331)
- Cited in: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. (PMID 11748854)