N371K (p.Asn371Lys) variant of GATA2 (P23769)
N371K (p.Asn371Lys) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphedema-leukemia sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
N371K (p.Asn371Lys) variant details
- p.Asn371Lys
- rs376003468
- ClinGen CA210024
- ClinVar RCV000197751
- ClinVar RCV001542124
- Pathogenic/Likely pathogenic
- GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic/Likely pathogenic (GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphe)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available