L62P (p.Leu62Pro) variant of OTOF (Otoferlin)
L62P (p.Leu62Pro) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
L62P (p.Leu62Pro) variant details
- p.Leu62Pro
- rs761506005
- ClinGen CA1564771
- ClinVar RCV003827713
- ExAC rs761506005
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.84
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available