R40P (p.Arg40Pro) variant of FKRP (Q9H9S5)
R40P (p.Arg40Pro) in FKRP (Q9H9S5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R40P (p.Arg40Pro) variant details
- p.Arg40Pro
- gnomAD 19-46755564-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.187
- CADD 15.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available