L18L (p.Leu18Leu) variant of FKRP (Q9H9S5)
L18L (p.Leu18Leu) in FKRP (Q9H9S5) is a synonymous 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.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs565563742
- gnomAD 19-46755504-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 7.00
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available
- Literature evidence available