I5V (p.Ile5Val) variant of OTOF (Otoferlin)
I5V (p.Ile5Val) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I5V (p.Ile5Val) variant details
- p.Ile5Val
- rs745503114
- ClinGen CA346106857
- ClinVar RCV002266190
- ExAC rs745503114
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.18
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available