L7R (p.Leu7Arg) variant of DYSF (Dysferlin)
L7R (p.Leu7Arg) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- gnomAD 2-71466859-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.47
- CADD 32.00
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available