L19P (p.Leu19Pro) variant of FKRP (Q9H9S5)
L19P (p.Leu19Pro) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD 19-46755506-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.82
- CADD 24.30
- PolyPhen-2 0.38
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available