E39G (p.Glu39Gly) variant of FGFR1 (P11362)
E39G (p.Glu39Gly) in FGFR1 (P11362) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E39G (p.Glu39Gly) variant details
- p.Glu39Gly
- TOPMed rs1822338280
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.43
- CADD 24.20
- PolyPhen-2 0.35
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available