M83T (p.Met83Thr) variant of OTOF (Otoferlin)
M83T (p.Met83Thr) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
M83T (p.Met83Thr) variant details
- p.Met83Thr
- rs752266635
- ClinGen CA1564737
- ClinVar RCV002642465
- ClinVar RCV002642466
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.69
- CADD 25.20
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)