R40V (p.Arg40Val) variant of FKRP (Q9H9S5)
R40V (p.Arg40Val) in FKRP (Q9H9S5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R40V (p.Arg40Val) variant details
- p.Arg40Val
- gnomAD 19-46755559-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 23.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available