R54R (p.Arg54Arg) variant of FGFR4 (P22455)
R54R (p.Arg54Arg) in FGFR4 (P22455) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R54R (p.Arg54Arg) variant details
- p.Arg54Arg
- rs446382
- gnomAD 5-177090460-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 9.73
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid… (PMID 24200957)