L16F (p.Leu16Phe) variant of FKRP (Q9H9S5)
L16F (p.Leu16Phe) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- gnomAD rs1348526409
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.41
- CADD 22.00
- PolyPhen-2 0.68
- SIFT 0.14
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available