P368S (p.Pro368Ser) variant of GATA2 (P23769)
P368S (p.Pro368Ser) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
P368S (p.Pro368Ser) variant details
- p.Pro368Ser
- rs2068633510
- ClinGen CA354413536
- ClinVar RCV001961104
- Ensembl rs2068633510
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.61
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available