N43T (p.Asn43Thr) variant of DYSF (Dysferlin)
N43T (p.Asn43Thr) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
N43T (p.Asn43Thr) variant details
- p.Asn43Thr
- rs1478546068
- ClinGen CA347216068
- ClinVar RCV002008001
- TOPMed rs1478546068
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- AlphaMissense 0.61
- MetaLR 0.59
- MetaSVM 0.30
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)