L3L (p.Leu3Leu) variant of FKRP (Q9H9S5)
L3L (p.Leu3Leu) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L3L (p.Leu3Leu) variant details
- p.Leu3Leu
- rs756295058
- gnomAD 19-46755459-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 10.60
- Population evidence available
- Structural context available
- Literature evidence available