V42E (p.Val42Glu) variant of DYSF (Dysferlin)
V42E (p.Val42Glu) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V42E (p.Val42Glu) variant details
- p.Val42Glu
- gnomAD 2-71480919-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.35
- CADD 27.20
- PolyPhen-2 0.62
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available