H50Q (p.His50Gln) variant of DNMT1 (P26358)
H50Q (p.His50Gln) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H50Q (p.His50Gln) variant details
- p.His50Gln
- rs146112081
- ClinGen CA403947246
- ClinVar RCV001925550
- 1000Genomes rs146112081
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.11
- CADD 14.00
- PolyPhen-2 0.32
- SIFT 0.27
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)