L10L (p.Leu10Leu) variant of FKRP (Q9H9S5)
L10L (p.Leu10Leu) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L10L (p.Leu10Leu) variant details
- p.Leu10Leu
- gnomAD 19-46755478-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 7.99
- Population evidence available
- Structural context available
- Literature evidence available