D18V (p.Asp18Val) variant of DYSF (Dysferlin)
D18V (p.Asp18Val) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D18V (p.Asp18Val) variant details
- p.Asp18Val
- gnomAD rs1227995661
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available