R67L (p.Arg67Leu) variant of GATA2 (P23769)
R67L (p.Arg67Leu) in GATA2 (P23769) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R67L (p.Arg67Leu) variant details
- p.Arg67Leu
- gnomAD rs1390513714
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.76
- CADD 25.80
- PolyPhen-2 0.15
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available