R101Q (p.Arg101Gln) variant of DNMT1 (P26358)
R101Q (p.Arg101Gln) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary sensory neuropathy-deafness-dementia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R101Q (p.Arg101Gln) variant details
- p.Arg101Gln
- rs1401130665
- ClinGen CA403946553
- ClinVar RCV000703179
- TOPMed rs1401130665
- Likely benign
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.09
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.55
- ClinVar: Likely benign (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)