R54C (p.Arg54Cys) variant of FGFR4 (P22455)
R54C (p.Arg54Cys) in FGFR4 (P22455) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R54C (p.Arg54Cys) variant details
- p.Arg54Cys
- rs572098218
- NCI-TCGA Cosmic COSV9944
- cosmic curated COSV99449
- ExAC rs572098218
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.46
- CADD 23.50
- PolyPhen-2 0.65
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available