R362P (p.Arg362Pro) variant of GATA2 (P23769)
R362P (p.Arg362Pro) 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 0.97 / 1. The record also includes structural context.
R362P (p.Arg362Pro) variant details
- p.Arg362Pro
- rs867160952
- ClinGen CA354413571
- cosmic curated COSV62003
- ClinVar RCV001542119
- Likely pathogenic
- not provided; Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susce
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Likely pathogenic (not provided; Deafness-lymphedema-leukemia syndrome; GATA2 defic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available