N50S (p.Asn50Ser) variant of GATA2 (P23769)
N50S (p.Asn50Ser) 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 0.62 / 1. The record also includes structural context.
N50S (p.Asn50Ser) variant details
- p.Asn50Ser
- rs1576749789
- ClinGen CA354408634
- cosmic curated COSV62004
- ClinVar RCV000799547
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- AlphaMissense 0.10
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 0.76
- SIFT 0.31
- EVE 0.17
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available