E29D (p.Glu29Asp) variant of FGFR1 (P11362)
E29D (p.Glu29Asp) in FGFR1 (P11362) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E29D (p.Glu29Asp) variant details
- p.Glu29Asp
- gnomAD rs1240973335
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.28
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available