P17L (p.Pro17Leu) variant of FGFR4 (P22455)
P17L (p.Pro17Leu) in FGFR4 (P22455) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- 1000Genomes rs200148492
- ExAC rs200148492
- gnomAD rs200148492
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.13
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the 1KG:TSI population (allele frequency 0.0097)
- Structural context available