R59Q (p.Arg59Gln) variant of FGFR4 (P22455)
R59Q (p.Arg59Gln) in FGFR4 (P22455) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R59Q (p.Arg59Gln) variant details
- p.Arg59Gln
- cosmic curated COSV52806
- ExAC rs751304047
- TOPMed rs751304047
- gnomAD rs751304047
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.17
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available