L2P (p.Leu2Pro) variant of DYSF (Dysferlin)
L2P (p.Leu2Pro) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L2P (p.Leu2Pro) variant details
- p.Leu2Pro
- gnomAD rs1243373795
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available