D68Y (p.Asp68Tyr) variant of DNMT3A (Q9Y6K1)
D68Y (p.Asp68Tyr) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
D68Y (p.Asp68Tyr) variant details
- p.Asp68Tyr
- ExAC rs756237176
- gnomAD rs756237176
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.48
- MetaLR 0.79
- MetaSVM 0.75
- CADD 23.00
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available