D22N (p.Asp22Asn) variant of DNMT3A (Q9Y6K1)
D22N (p.Asp22Asn) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
D22N (p.Asp22Asn) variant details
- p.Asp22Asn
- rs1351253637
- ClinGen CA346254309
- ClinVar RCV001768222
- TOPMed rs1351253637
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- AlphaMissense 0.08
- MetaLR 0.61
- MetaSVM 0.38
- PolyPhen-2 0.59
- SIFT 0.10
- MutPred 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available