D18E (p.Asp18Glu) variant of DYSF (Dysferlin)
D18E (p.Asp18Glu) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- gnomAD 2-71466896-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.07
- CADD 22.10
- PolyPhen-2 0.45
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available