H246R (p.His246Arg) variant of MYO6 (Unconventional myosin-VI)
H246R (p.His246Arg) in MYO6 (Unconventional myosin-VI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of MYO6-related disorder; Monogenic hearing loss; Rare genetic deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
H246R (p.His246Arg) variant details
- p.His246Arg
- rs121912560
- UniProt VAR 029988
- Pathogenic/Likely pathogenic
- MYO6-related disorder; Monogenic hearing loss; Rare genetic deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 25.80
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (MYO6-related disorder; Monogenic hearing loss; Rare genetic deaf)
- EBI: Pathogenic (in DFNHCM)
- UniProt: Pathogenic (in DFNHCM)
- Most common in the Non-Finnish European population (allele frequency 4e-05)
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)
- Cited in: A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. (PMID 18348273)