R118L (p.Arg118Leu) variant of DNMT1 (P26358)
R118L (p.Arg118Leu) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R118L (p.Arg118Leu) variant details
- p.Arg118Leu
- rs149362098
- ClinGen CA403946320
- cosmic curated COSV61577
- ClinVar RCV001323725
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.03
- CADD 6.72
- PolyPhen-2 0.07
- SIFT 0.31
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)