E39Q (p.Glu39Gln) variant of FGFR4 (P22455)
E39Q (p.Glu39Gln) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- gnomAD rs1217937501
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.20
- CADD 21.40
- PolyPhen-2 0.06
- SIFT 0.25
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available