R119G (p.Arg119Gly) variant of DNMT1 (P26358)
R119G (p.Arg119Gly) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary sensory neuropathy-deafness-dementia syndrome; Inborn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R119G (p.Arg119Gly) variant details
- p.Arg119Gly
- rs146516082
- ClinGen CA9188785
- ClinVar RCV001214584
- ClinVar RCV001815026
- Uncertain significance
- not specified; Hereditary sensory neuropathy-deafness-dementia syndrome; Inborn
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.01
- CADD 11.80
- PolyPhen-2 0.12
- SIFT 0.17
- ClinVar: Uncertain significance (not specified; Hereditary sensory neuropathy-deafness-dementia s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)