G110R (p.Gly110Arg) variant of DNMT1 (P26358)
G110R (p.Gly110Arg) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G110R (p.Gly110Arg) variant details
- p.Gly110Arg
- rs376894659
- ClinGen CA9188794
- cosmic curated COSV61584
- ClinVar RCV000555892
- Uncertain significance
- Inborn genetic diseases; Hereditary sensory neuropathy-deafness-dementia syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.16
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary sensory neuropathy-deafness-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)