E71G (p.Glu71Gly) variant of DNMT1 (P26358)
E71G (p.Glu71Gly) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E71G (p.Glu71Gly) variant details
- p.Glu71Gly
- rs1477841278
- ClinGen CA403947011
- ClinVar RCV002938554
- gnomAD rs1477841278
- Likely benign
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.22
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely benign (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)