L16L (p.Leu16Leu) variant of FKRP (Q9H9S5)
L16L (p.Leu16Leu) in FKRP (Q9H9S5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L16L (p.Leu16Leu) variant details
- p.Leu16Leu
- rs776358648
- gnomAD 19-46755498-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 10.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available