L19V (p.Leu19Val) variant of FKRP (Q9H9S5)
L19V (p.Leu19Val) in FKRP (Q9H9S5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- gnomAD rs1408622539
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.54
- CADD 21.80
- PolyPhen-2 0.91
- SIFT 0.10
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available