E77K (p.Glu77Lys) variant of FLT3 (P36888)
E77K (p.Glu77Lys) in FLT3 (P36888) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E77K (p.Glu77Lys) variant details
- p.Glu77Lys
- rs371663652
- 1000Genomes rs371663652
- ESP rs371663652
- ExAC rs371663652
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.12
- MetaLR 0.24
- MetaSVM -0.94
- CADD 9.50
- PolyPhen-2 0.00
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available