E35K (p.Glu35Lys) variant of GATA2 (P23769)
E35K (p.Glu35Lys) in GATA2 (P23769) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- cosmic curated COSV10524
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.81
- CADD 29.50
- PolyPhen-2 0.47
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available