H25Y (p.His25Tyr) variant of GATA2 (P23769)
H25Y (p.His25Tyr) 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.
H25Y (p.His25Tyr) variant details
- p.His25Tyr
- ExAC rs749879020
- gnomAD rs749879020
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.79
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available