H25R (p.His25Arg) variant of GATA2 (P23769)
H25R (p.His25Arg) in GATA2 (P23769) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
H25R (p.His25Arg) variant details
- p.His25Arg
- gnomAD rs2878322
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.81
- CADD 29.40
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available