E44K (p.Glu44Lys) variant of GATA2 (P23769)
E44K (p.Glu44Lys) in GATA2 (P23769) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- cosmic curated COSV10524
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 0.84
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available