R26S (p.Arg26Ser) variant of DNMT1 (P26358)
R26S (p.Arg26Ser) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R26S (p.Arg26Ser) variant details
- p.Arg26Ser
- rs780503694
- ClinGen CA9188874
- ClinVar RCV000649353
- ClinVar RCV004025778
- Uncertain significance
- Inborn genetic diseases; Hereditary sensory neuropathy-deafness-dementia syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.15
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary sensory neuropathy-deafness-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)