D21V (p.Asp21Val) variant of DYSF (Dysferlin)
D21V (p.Asp21Val) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
D21V (p.Asp21Val) variant details
- p.Asp21Val
- gnomAD 2-71466907-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.84
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available