G77R (p.Gly77Arg) variant of DNMT1 (P26358)
G77R (p.Gly77Arg) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hereditary sensory neuropathy-deafness-dementia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G77R (p.Gly77Arg) variant details
- p.Gly77Arg
- rs746687493
- ClinGen CA305185047
- ClinVar RCV001224274
- ClinVar RCV005909057
- Conflicting interpretations
- not specified; Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.31
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hereditary sensory neuropathy-deafness-dementia s)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)