R69L (p.Arg69Leu) variant of DNMT1 (P26358)
R69L (p.Arg69Leu) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R69L (p.Arg69Leu) variant details
- p.Arg69Leu
- rs61750053
- ClinGen CA403947028
- ClinVar RCV001058476
- 1000Genomes rs61750053
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.04
- CADD 19.40
- PolyPhen-2 0.06
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)