L34Q (p.Leu34Gln) variant of FGFR4 (P22455)
L34Q (p.Leu34Gln) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L34Q (p.Leu34Gln) variant details
- p.Leu34Gln
- gnomAD 5-177090399-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.22
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available