C352R (p.Cys352Arg) variant of GATA2 (P23769)
C352R (p.Cys352Arg) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.99 / 1. The record also includes structural context.
C352R (p.Cys352Arg) variant details
- p.Cys352Arg
- rs797045591
- ClinGen CA208292
- cosmic curated COSV62004
- ClinVar RCV000194241
- Likely pathogenic
- GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 1.46
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Likely pathogenic (GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphe)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available