G48E (p.Gly48Glu) variant of FLT3 (P36888)
G48E (p.Gly48Glu) in FLT3 (P36888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G48E (p.Gly48Glu) variant details
- p.Gly48Glu
- TOPMed rs1394449672
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.09
- MetaLR 0.23
- MetaSVM -0.87
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available