A15D (p.Ala15Asp) variant of GATA2 (P23769)
A15D (p.Ala15Asp) 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 0.78 / 1. The record also includes population frequency data and structural context.
A15D (p.Ala15Asp) variant details
- p.Ala15Asp
- rs2068710977
- ClinGen CA354409165
- ClinVar RCV001347791
- Ensembl rs2068710977
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.77
- CADD 31.00
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available