P63L (p.Pro63Leu) variant of GATA2 (P23769)
P63L (p.Pro63Leu) 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 0.63 / 1. The record also includes structural context.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- rs1576749724
- ClinGen CA354408381
- cosmic curated COSV10743
- ClinVar RCV001878882
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.24
- MetaLR 0.80
- MetaSVM 0.59
- PolyPhen-2 0.02
- SIFT 0.06
- MutPred 0.51
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available