P41T (p.Pro41Thr) variant of GATA2 (P23769)
P41T (p.Pro41Thr) 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 0.74 / 1. The record also includes population frequency data and structural context.
P41T (p.Pro41Thr) variant details
- p.Pro41Thr
- rs143590990
- ClinGen CA354408803
- ClinVar RCV002596471
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.79
- CADD 25.50
- PolyPhen-2 0.86
- SIFT 0.18
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available