Y60F (p.Tyr60Phe) variant of GATA2 (P23769)
Y60F (p.Tyr60Phe) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
Y60F (p.Tyr60Phe) variant details
- p.Tyr60Phe
- ExAC rs750003894
- gnomAD rs750003894
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.84
- AlphaMissense 0.22
- MetaLR 0.95
- MetaSVM 1.09
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available