T47T (p.Thr47Thr) variant of OPA1 (O60313)
T47T (p.Thr47Thr) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
T47T (p.Thr47Thr) variant details
- p.Thr47Thr
- gnomAD 3-193614831-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 3.05
- Population evidence available
- Structural context available
- Literature evidence available