R48C (p.Arg48Cys) variant of FKRP (Q9H9S5)
R48C (p.Arg48Cys) in FKRP (Q9H9S5) 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 0.60 / 1. The record also includes population frequency data and structural context.
R48C (p.Arg48Cys) variant details
- p.Arg48Cys
- NCI-TCGA Cosmic COSV5935
- cosmic curated COSV59358
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.62
- CADD 23.70
- PolyPhen-2 0.55
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available