V42L (p.Val42Leu) variant of DYSF (Dysferlin)
V42L (p.Val42Leu) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V42L (p.Val42Leu) variant details
- p.Val42Leu
- gnomAD 2-71480918-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.12
- CADD 17.00
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available