H13R (p.His13Arg) variant of GATA2 (P23769)
H13R (p.His13Arg) in GATA2 (P23769) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
H13R (p.His13Arg) variant details
- p.His13Arg
- gnomAD rs1485533975
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.88
- CADD 24.00
- PolyPhen-2 0.24
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available