E39K (p.Glu39Lys) variant of FGFR1 (P11362)
E39K (p.Glu39Lys) in FGFR1 (P11362) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- gnomAD rs1164001578
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.20
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available