H97Y (p.His97Tyr) variant of DNMT1 (P26358)
H97Y (p.His97Tyr) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Hereditary sensory neuropathy-deafness-dementia syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H97Y (p.His97Tyr) variant details
- p.His97Tyr
- rs753670606
- ClinGen CA9188802
- ClinVar RCV002438018
- ClinVar RCV003528401
- Uncertain significance
- Inborn genetic diseases; Hereditary sensory neuropathy-deafness-dementia syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.13
- CADD 20.70
- PolyPhen-2 0.19
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary sensory neuropathy-deafness-)
- EBI: Variant of uncertain significance (in dbSNP:rs16999593)
- UniProt: Uncertain significance (in dbSNP:rs16999593)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)