H26Y (p.His26Tyr) variant of GATA2 (P23769)
H26Y (p.His26Tyr) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
H26Y (p.His26Tyr) variant details
- p.His26Tyr
- rs1576749889
- ClinGen CA354409027
- ClinVar RCV003804774
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.82
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available