P39del (p.Pro39del) variant of FKRP (Q9H9S5)
P39del (p.Pro39del) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P39del (p.Pro39del) variant details
- gnomAD 19-46755564-GCCC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.47
- Population evidence available
- Structural context available
- Literature evidence available