H13Q (p.His13Gln) variant of GATA2 (P23769)
H13Q (p.His13Gln) 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 0.72 / 1. The record also includes population frequency data and structural context.
H13Q (p.His13Gln) variant details
- p.His13Gln
- rs2068711214
- ClinGen CA354409185
- ClinVar RCV001049039
- Ensembl rs2068711214
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.87
- CADD 22.80
- PolyPhen-2 0.30
- SIFT 0.05
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available