Q7H (p.Gln7His) variant of GATA2 (P23769)
Q7H (p.Gln7His) in GATA2 (P23769) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Q7H (p.Gln7His) variant details
- p.Gln7His
- gnomAD rs1452320871
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.76
- CADD 26.20
- PolyPhen-2 0.94
- SIFT 0.03
- Population evidence available
- Structural context available