P385L (p.Pro385Leu) variant of GATA2 (P23769)
P385L (p.Pro385Leu) 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 0.97 / 1. The record also includes structural context.
P385L (p.Pro385Leu) variant details
- p.Pro385Leu
- rs2107668121
- ClinGen CA354413373
- NCI-TCGA Cosmic COSV6200
- cosmic curated COSV62003
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available