R9S (p.Arg9Ser) variant of GATA2 (P23769)
R9S (p.Arg9Ser) in GATA2 (P23769) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- gnomAD rs1436974541
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.85
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available