S447R (p.Ser447Arg) variant of GATA2 (P23769)
S447R (p.Ser447Arg) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Myelodysplastic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
S447R (p.Ser447Arg) variant details
- p.Ser447Arg
- rs1338194519
- ClinGen CA354412703
- ClinVar RCV001541963
- TOPMed rs1338194519
- Likely pathogenic
- Myelodysplastic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- AlphaMissense 0.96
- MetaLR 0.86
- MetaSVM 0.66
- PolyPhen-2 0.85
- SIFT 0.01
- EVE 0.47
- ClinVar: Likely pathogenic (Myelodysplastic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available