Y495C (p.Tyr495Cys) variant of DNMT1 (P26358)
Y495C (p.Tyr495Cys) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant cerebellar ataxia, deafness and narcolepsy; not provided; Her. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
Y495C (p.Tyr495Cys) variant details
- p.Tyr495Cys
- rs199473690
- ClinGen CA259618
- ClinVar RCV000022529
- ClinVar RCV000236669
- Pathogenic/Likely pathogenic
- Autosomal dominant cerebellar ataxia, deafness and narcolepsy; not provided; Her
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant cerebellar ataxia, deafness and narcolepsy; n)
- EBI: Pathogenic (in HSN1E)
- UniProt: Pathogenic (in HSN1E)
- Structural context available
- Cited in: Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study. (PMID 10210919)
- Cited in: Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. (PMID 21532572)