A9E (p.Ala9Glu) variant of DYSF (Dysferlin)
A9E (p.Ala9Glu) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- gnomAD 2-71466886-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0796
- REVEL 0.04
- CADD 7.64
- PolyPhen-2 0.07
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available