L3I (p.Leu3Ile) variant of FKRP (Q9H9S5)
L3I (p.Leu3Ile) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L3I (p.Leu3Ile) variant details
- p.Leu3Ile
- gnomAD 19-46755457-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.40
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available