R5S (p.Arg5Ser) variant of FKRP (Q9H9S5)
R5S (p.Arg5Ser) in FKRP (Q9H9S5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- TOPMed rs1060502108
- gnomAD rs1060502108
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.48
- CADD 20.00
- PolyPhen-2 0.35
- SIFT 0.37
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available