E82K (p.Glu82Lys) variant of FLT3 (P36888)
E82K (p.Glu82Lys) in FLT3 (P36888) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E82K (p.Glu82Lys) variant details
- p.Glu82Lys
- TOPMed rs1342977721
- gnomAD rs1342977721
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.18
- MetaLR 0.08
- MetaSVM -0.97
- CADD 21.00
- PolyPhen-2 0.13
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available