V34I (p.Val34Ile) variant of OTOF (Otoferlin)
V34I (p.Val34Ile) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V34I (p.Val34Ile) variant details
- p.Val34Ile
- rs397517933
- ClinGen CA142728
- cosmic curated COSV10724
- ClinVar RCV000041452
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.17
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- Structural context available