I101T (p.Ile101Thr) variant of OTOF (Otoferlin)
I101T (p.Ile101Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I101T (p.Ile101Thr) variant details
- p.Ile101Thr
- rs754508360
- ClinGen CA1564727
- ClinVar RCV001847384
- ExAC rs754508360
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.19
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00096)
- Structural context available