G8S (p.Gly8Ser) variant of DNMT3A (Q9Y6K1)
G8S (p.Gly8Ser) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- ExAC rs781229619
- TOPMed rs781229619
- gnomAD rs781229619
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.56
- MetaLR 0.80
- MetaSVM 0.84
- CADD 24.80
- PolyPhen-2 0.86
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available