V34L (p.Val34Leu) variant of OTOF (Otoferlin)
V34L (p.Val34Leu) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V34L (p.Val34Leu) variant details
- p.Val34Leu
- TOPMed rs397517933
- gnomAD rs397517933
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.15
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available