H50Y (p.His50Tyr) variant of DNMT1 (P26358)
H50Y (p.His50Tyr) 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 0.33 / 1. The record also includes published literature and structural context.
H50Y (p.His50Tyr) variant details
- p.His50Tyr
- rs2039033115
- ClinGen CA403947252
- ClinVar RCV001068228
- Ensembl rs2039033115
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- AlphaMissense 0.18
- MetaLR 0.10
- MetaSVM -0.88
- PolyPhen-2 0.49
- SIFT 0.01
- MutPred 0.50
- 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)