H31Q (p.His31Gln) variant of GATA2 (P23769)
H31Q (p.His31Gln) 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 0.63 / 1. The record also includes population frequency data and structural context.
H31Q (p.His31Gln) variant details
- p.His31Gln
- rs1010470274
- ClinGen CA83372437
- ClinVar RCV001365270
- TOPMed rs1010470274
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.78
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available