H57Y (p.His57Tyr) variant of DNMT3A (Q9Y6K1)
H57Y (p.His57Tyr) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
H57Y (p.His57Tyr) variant details
- p.His57Tyr
- TOPMed rs1273917027
- gnomAD rs1273917027
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.53
- MetaLR 0.79
- MetaSVM 0.84
- CADD 23.90
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available