V42M (p.Val42Met) variant of DYSF (Dysferlin)
V42M (p.Val42Met) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V42M (p.Val42Met) variant details
- p.Val42Met
- rs374203339
- ClinGen CA1705230
- ClinVar RCV000536797
- ClinVar RCV000711545
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.14
- MetaLR 0.28
- MetaSVM -0.53
- PolyPhen-2 0.92
- SIFT 0.02
- EVE 0.52
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)