N40Y (p.Asn40Tyr) variant of DYSF (Dysferlin)
N40Y (p.Asn40Tyr) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
N40Y (p.Asn40Tyr) variant details
- p.Asn40Tyr
- rs911341473
- ClinGen CA49750078
- ClinVar RCV002043688
- TOPMed rs911341473
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- AlphaMissense 0.68
- MetaLR 0.59
- MetaSVM 0.29
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.78
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)