H51Y (p.His51Tyr) variant of GATA2 (P23769)
H51Y (p.His51Tyr) in GATA2 (P23769) is a missense change. Clinical records from ClinVar 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 0.84 / 1. The record also includes population frequency data and structural context.
H51Y (p.His51Tyr) variant details
- p.His51Tyr
- cosmic curated COSV62003
- Ensembl rs2068708486
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.90
- CADD 25.40
- PolyPhen-2 0.92
- SIFT 0.34
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available