R119S (p.Arg119Ser) variant of DNMT1 (P26358)
R119S (p.Arg119Ser) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary sensory neuropathy-deafness-dementia syndrome; Inborn genetic disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R119S (p.Arg119Ser) variant details
- p.Arg119Ser
- rs373923585
- ClinGen CA9188783
- ClinVar RCV001056097
- ClinVar RCV002460128
- Conflicting interpretations
- Hereditary sensory neuropathy-deafness-dementia syndrome; Inborn genetic disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.01
- CADD 5.75
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Hereditary sensory neuropathy-deafness-dementia syndrome; Inborn)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)