G589A (p.Gly589Ala) variant of DNMT1 (P26358)
G589A (p.Gly589Ala) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant cerebellar ataxia, deafness and narcolepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
G589A (p.Gly589Ala) variant details
- p.Gly589Ala
- rs397509393
- ClinGen CA143866
- ClinVar RCV000043633
- ClinVar RCV003447104
- Likely pathogenic
- Autosomal dominant cerebellar ataxia, deafness and narcolepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 0.88
- MetaLR 0.22
- MetaSVM -0.74
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.72
- ClinVar: Likely pathogenic (Autosomal dominant cerebellar ataxia, deafness and narcolepsy)
- EBI: Pathogenic (in ADCADN)
- UniProt: Pathogenic (in ADCADN)
- Structural context available
- Cited in: Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. (PMID 22328086)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)