P47P (p.Pro47Pro) variant of FKRP (Q9H9S5)
P47P (p.Pro47Pro) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P47P (p.Pro47Pro) variant details
- p.Pro47Pro
- gnomAD 19-46755591-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 4.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available