L2R (p.Leu2Arg) variant of DYSF (Dysferlin)
L2R (p.Leu2Arg) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L2R (p.Leu2Arg) variant details
- p.Leu2Arg
- cosmic curated COSV50512
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 31.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available