M147T (p.Met147Thr) variant of SLC26A4 (Pendrin)
M147T (p.Met147Thr) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
M147T (p.Met147Thr) variant details
- p.Met147Thr
- rs1554354787
- ClinGen CA368847872
- ClinVar RCV000672680
- ClinVar RCV001004624
- Pathogenic/Likely pathogenic
- not provided; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pendred syndrome)
- EBI: Pathogenic (in DFNB4)
- UniProt: Pathogenic (in DFNB4)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)