K36E (p.Lys36Glu) variant of DYSF (Dysferlin)
K36E (p.Lys36Glu) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K36E (p.Lys36Glu) variant details
- p.Lys36Glu
- rs2082828360
- ClinGen CA347215968
- ClinVar RCV001295278
- Ensembl rs2082828360
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.90
- MetaLR 0.33
- MetaSVM -0.51
- PolyPhen-2 0.86
- SIFT 0.09
- EVE 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)