R101W (p.Arg101Trp) variant of DNMT1 (P26358)
R101W (p.Arg101Trp) 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; not provided; Hereditary sensory neuropathy-deafness-de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R101W (p.Arg101Trp) variant details
- p.Arg101Trp
- rs369196079
- ClinGen CA9188798
- cosmic curated COSV61583
- ClinVar RCV000700835
- Conflicting interpretations
- Inborn genetic diseases; not provided; Hereditary sensory neuropathy-deafness-de
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.15
- CADD 24.10
- PolyPhen-2 0.68
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Hereditary sensory neurop)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)