R106C (p.Arg106Cys) variant of DNMT1 (P26358)
R106C (p.Arg106Cys) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary sensory neuropathy-deafness-dementia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R106C (p.Arg106Cys) variant details
- p.Arg106Cys
- rs759600542
- ClinGen CA9188797
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10053
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.03
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)