L19M (p.Leu19Met) variant of FKRP (Q9H9S5)
L19M (p.Leu19Met) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- gnomAD 19-46755505-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.60
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available