V45L (p.Val45Leu) variant of DYSF (Dysferlin)
V45L (p.Val45Leu) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V45L (p.Val45Leu) variant details
- p.Val45Leu
- gnomAD 2-71480927-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.32
- CADD 24.10
- PolyPhen-2 0.39
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available