G46G (p.Gly46Gly) variant of FKRP (Q9H9S5)
G46G (p.Gly46Gly) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
G46G (p.Gly46Gly) variant details
- p.Gly46Gly
- gnomAD 19-46755588-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0861
- CADD 0.76
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available