A554V (p.Ala554Val) variant of DNMT1 (P26358)
A554V (p.Ala554Val) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Autosomal dominant cerebellar ataxia, deafness and narc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
A554V (p.Ala554Val) variant details
- p.Ala554Val
- rs397509392
- ClinGen CA143863
- ClinVar RCV000043632
- ClinVar RCV001092943
- Pathogenic
- Inborn genetic diseases; Autosomal dominant cerebellar ataxia, deafness and narc
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.63
- MetaLR 0.18
- MetaSVM -0.95
- PolyPhen-2 1.00
- SIFT 0.16
- EVE 0.48
- ClinVar: Pathogenic (Inborn genetic diseases; Autosomal dominant cerebellar ataxia, d)
- 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)