K58Q (p.Lys58Gln) variant of DNMT1 (P26358)
K58Q (p.Lys58Gln) 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 0.34 / 1. The record also includes published literature and structural context.
K58Q (p.Lys58Gln) variant details
- p.Lys58Gln
- rs2145379807
- ClinGen CA403947159
- ClinVar RCV001371406
- Ensembl rs2145379807
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- AlphaMissense 0.14
- MetaLR 0.09
- MetaSVM -1.00
- PolyPhen-2 1.00
- SIFT 0.35
- MutPred 0.48
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)