T35A (p.Thr35Ala) variant of DYSF (Dysferlin)
T35A (p.Thr35Ala) 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 0.90 / 1. The record also includes structural context.
T35A (p.Thr35Ala) variant details
- p.Thr35Ala
- rs985470984
- TOPMed rs985470984
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.95
- MetaLR 0.86
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available