K70E (p.Lys70Glu) variant of DNMT1 (P26358)
K70E (p.Lys70Glu) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K70E (p.Lys70Glu) variant details
- p.Lys70Glu
- rs2513894206
- ClinGen CA403947025
- ClinVar RCV003880013
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.21
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.17
- 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 1.8e-06)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)