Q20P (p.Gln20Pro) variant of GATA2 (P23769)
Q20P (p.Gln20Pro) 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 0.66 / 1. The record also includes population frequency data and structural context.
Q20P (p.Gln20Pro) variant details
- p.Gln20Pro
- rs1303947441
- ClinGen CA354409117
- ClinVar RCV000697049
- gnomAD rs1303947441
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.79
- CADD 26.80
- PolyPhen-2 0.92
- SIFT 0.06
- 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 3.6e-06)
- Structural context available