G77S (p.Gly77Ser) variant of DNMT1 (P26358)
G77S (p.Gly77Ser) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Hereditary sensory neuropathy-deafness-dementia syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G77S (p.Gly77Ser) variant details
- p.Gly77Ser
- rs746687493
- ClinGen CA9188808
- ClinVar RCV000692609
- ClinVar RCV002442450
- Conflicting interpretations
- Inborn genetic diseases; Hereditary sensory neuropathy-deafness-dementia syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.27
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Hereditary sensory neuropathy-deafness-)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)