R69H (p.Arg69His) variant of DNMT1 (P26358)
R69H (p.Arg69His) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Hereditary sensory neuropathy-deafness-dementia syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R69H (p.Arg69His) variant details
- p.Arg69His
- rs61750053
- ClinGen CA290655
- cosmic curated COSV61577
- ClinVar RCV000124761
- Benign
- not specified; not provided; Hereditary sensory neuropathy-deafness-dementia syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.04
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (not specified; not provided; Hereditary sensory neuropathy-deafn)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)