Y59N (p.Tyr59Asn) variant of GATA2 (P23769)
Y59N (p.Tyr59Asn) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Myelodysplastic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
Y59N (p.Tyr59Asn) variant details
- p.Tyr59Asn
- rs2068707978
- ClinGen CA354408463
- ClinVar RCV002508687
- ClinVar RCV005254108
- Uncertain significance
- not provided; Myelodysplastic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Myelodysplastic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available