R48V (p.Arg48Val) variant of FKRP (Q9H9S5)
R48V (p.Arg48Val) in FKRP (Q9H9S5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R48V (p.Arg48Val) variant details
- p.Arg48Val
- rs1555738103
- gnomAD 19-46755587-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 11.90
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available