L19L (p.Leu19Leu) variant of FKRP (Q9H9S5)
L19L (p.Leu19Leu) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- rs2122607618
- gnomAD 19-46755507-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 10.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available