V114L (p.Val114Leu) variant of OTOF (Otoferlin)
V114L (p.Val114Leu) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
V114L (p.Val114Leu) variant details
- p.Val114Leu
- 1000Genomes rs376117319
- ESP rs376117319
- ExAC rs376117319
- TOPMed rs376117319
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.04
- CADD 4.56
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available