L517P (p.Leu517Pro) variant of OTOF (Otoferlin)
L517P (p.Leu517Pro) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
L517P (p.Leu517Pro) variant details
- p.Leu517Pro
- rs1558490542
- ClinGen CA346135158
- ClinVar RCV000679829
- ClinVar RCV001291115
- Pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.98
- MetaLR 0.79
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)