C352G (p.Cys352Gly) variant of GATA2 (P23769)
C352G (p.Cys352Gly) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susce. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
C352G (p.Cys352Gly) variant details
- p.Cys352Gly
- rs797045591
- ClinGen CA354413636
- ClinVar RCV001542206
- ClinVar RCV005603726
- Likely pathogenic
- not provided; Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susce
- 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 (not provided; Deafness-lymphedema-leukemia syndrome; GATA2 defic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available