R114K (p.Arg114Lys) variant of DNMT1 (P26358)
R114K (p.Arg114Lys) 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; not provided; Hereditary sensory neuropathy-deafness-de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R114K (p.Arg114Lys) variant details
- p.Arg114Lys
- rs554894511
- ClinGen CA9188790
- cosmic curated COSV61580
- ClinVar RCV000235913
- Uncertain significance
- Inborn genetic diseases; not provided; Hereditary sensory neuropathy-deafness-de
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.04
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 0.43
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Hereditary sensory neurop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)