Q55R (p.Gln55Arg) variant of GATA2 (P23769)
Q55R (p.Gln55Arg) in GATA2 (P23769) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Q55R (p.Gln55Arg) variant details
- p.Gln55Arg
- cosmic curated COSV62003
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.84
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.04
- Population evidence available
- Structural context available