H57Q (p.His57Gln) variant of DNMT3A (Q9Y6K1)
H57Q (p.His57Gln) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
H57Q (p.His57Gln) variant details
- p.His57Gln
- ESP rs139047498
- ExAC rs139047498
- TOPMed rs139047498
- gnomAD rs139047498
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.56
- MetaLR 0.71
- MetaSVM 0.45
- CADD 22.90
- PolyPhen-2 0.88
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available