A64S (p.Ala64Ser) variant of GATA2 (P23769)
A64S (p.Ala64Ser) 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 0.67 / 1. The record also includes population frequency data and structural context.
A64S (p.Ala64Ser) variant details
- p.Ala64Ser
- rs370831063
- ClinGen CA354408373
- ClinVar RCV001068495
- ClinVar RCV004792715
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.63
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.34
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available