E29G (p.Glu29Gly) variant of FGFR1 (P11362)
E29G (p.Glu29Gly) 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.
E29G (p.Glu29Gly) variant details
- p.Glu29Gly
- ExAC rs758551875
- TOPMed rs758551875
- gnomAD rs758551875
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.46
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available