K32K (p.Lys32Lys) variant of DYSF (Dysferlin)
K32K (p.Lys32Lys) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K32K (p.Lys32Lys) variant details
- p.Lys32Lys
- gnomAD 2-71466890-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 15.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available