K36S (p.Lys36Ser) variant of DYSF (Dysferlin)
K36S (p.Lys36Ser) in DYSF (Dysferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K36S (p.Lys36Ser) variant details
- p.Lys36Ser
- rs398123764
- gnomAD 2-71480899-CAA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available
- Cited in: Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR… (PMID 23757202)