L7P (p.Leu7Pro) variant of DYSF (Dysferlin)
L7P (p.Leu7Pro) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- gnomAD rs2080944274
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available