L18I (p.Leu18Ile) variant of FKRP (Q9H9S5)
L18I (p.Leu18Ile) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L18I (p.Leu18Ile) variant details
- p.Leu18Ile
- gnomAD 19-46755502-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.45
- CADD 20.50
- PolyPhen-2 0.11
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available