D22N (p.Asp22Asn) variant of DNMT1 (P26358)
D22N (p.Asp22Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D22N (p.Asp22Asn) variant details
- p.Asp22Asn
- rs1224343919
- ClinGen CA403950173
- ClinVar RCV002364133
- TOPMed rs1224343919
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.14
- CADD 29.40
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)