R118H (p.Arg118His) variant of DNMT1 (P26358)
R118H (p.Arg118His) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary sensory neuropathy-deafness-dementia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R118H (p.Arg118His) variant details
- p.Arg118His
- rs149362098
- ClinGen CA9188787
- cosmic curated COSV10053
- ClinVar RCV001899700
- Likely benign
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.09
- CADD 12.10
- PolyPhen-2 0.45
- SIFT 0.41
- ClinVar: Likely benign (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)