C24W (p.Cys24Trp) variant of DYSF (Dysferlin)
C24W (p.Cys24Trp) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
C24W (p.Cys24Trp) variant details
- p.Cys24Trp
- gnomAD 2-71466854-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.38
- CADD 25.20
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available