E28K (p.Glu28Lys) variant of DNMT3A (Q9Y6K1)
E28K (p.Glu28Lys) 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.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- cosmic curated COSV10636
- gnomAD rs1440279401
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.44
- MetaLR 0.80
- MetaSVM 0.79
- CADD 24.10
- PolyPhen-2 0.90
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available