M34V (p.Met34Val) variant of GATA2 (P23769)
M34V (p.Met34Val) 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 0.65 / 1. The record also includes population frequency data and structural context.
M34V (p.Met34Val) variant details
- p.Met34Val
- rs762794939
- ClinGen CA354408893
- ClinVar RCV001361720
- ClinVar RCV004779096
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.76
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available