M147I (p.Met147Ile) variant of SLC26A4 (Pendrin)
M147I (p.Met147Ile) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
M147I (p.Met147Ile) variant details
- p.Met147Ile
- rs201905280
- ClinGen CA4432482
- ClinVar RCV000220422
- ClinVar RCV000669107
- Conflicting interpretations
- not specified; not provided; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Pendred syndrome)
- EBI: Variant of uncertain significance (in DFNB4)
- UniProt: Uncertain significance (in DFNB4)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)