p.Ala36 Arg48del variant of FKRP (Q9H9S5)
p.Ala36 Arg48del in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala36 Arg48del variant details
- gnomAD 19-46755550-TCCCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 18.00
- Population evidence available
- Structural context available
- Literature evidence available