E51K (p.Glu51Lys) variant of DNMT1 (P26358)
E51K (p.Glu51Lys) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary sensory neuropathy-deafness-dementia syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- rs755995375
- ClinGen CA9188822
- NCI-TCGA Cosmic COSV6157
- cosmic curated COSV61576
- Conflicting interpretations
- Hereditary sensory neuropathy-deafness-dementia syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.22
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Hereditary sensory neuropathy-deafness-dementia syndrome; not pr)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)