R69L (p.Arg69Leu) variant of GATA2 (P23769)
R69L (p.Arg69Leu) 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 0.71 / 1. The record also includes population frequency data and structural context.
R69L (p.Arg69Leu) variant details
- p.Arg69Leu
- rs2068706969
- ClinGen CA1400719785
- ClinVar RCV001320763
- Ensembl rs2068706969
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.69
- CADD 23.40
- PolyPhen-2 0.35
- SIFT 0.45
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available