P15L (p.Pro15Leu) variant of DYSF (Dysferlin)
P15L (p.Pro15Leu) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- gnomAD 2-71454042-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 19.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available