R106H (p.Arg106His) variant of DNMT1 (P26358)
R106H (p.Arg106His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R106H (p.Arg106His) variant details
- p.Arg106His
- rs751662619
- ClinGen CA9188796
- cosmic curated COSV10441
- ClinVar RCV001910372
- Conflicting interpretations
- Hereditary sensory neuropathy-deafness-dementia syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.06
- CADD 10.90
- PolyPhen-2 0.05
- SIFT 0.57
- ClinVar: Conflicting classifications of pathogenicity (Hereditary sensory neuropathy-deafness-dementia syndrome; not pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)