R54H (p.Arg54His) variant of FGFR4 (P22455)
R54H (p.Arg54His) 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 0.34 / 1. The record also includes population frequency data and structural context.
R54H (p.Arg54His) variant details
- p.Arg54His
- rs776394759
- ExAC rs776394759
- TOPMed rs776394759
- gnomAD rs776394759
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.33
- CADD 22.00
- PolyPhen-2 0.40
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00012)
- Structural context available