P368A (p.Pro368Ala) variant of GATA2 (P23769)
P368A (p.Pro368Ala) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
P368A (p.Pro368Ala) variant details
- p.Pro368Ala
- rs2068633510
- ClinGen CA354413537
- ClinVar RCV001225480
- Ensembl rs2068633510
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.93
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.11
- CADD 28.10
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available