T14A (p.Thr14Ala) variant of DYSF (Dysferlin)
T14A (p.Thr14Ala) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
T14A (p.Thr14Ala) variant details
- p.Thr14Ala
- gnomAD 2-71454038-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available