E36K (p.Glu36Lys) variant of DNMT3A (Q9Y6K1)
E36K (p.Glu36Lys) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- cosmic curated COSV10586
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.50
- MetaLR 0.78
- MetaSVM 0.76
- CADD 23.80
- PolyPhen-2 0.90
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available