T57T (p.Thr57Thr) variant of OPA1 (O60313)
T57T (p.Thr57Thr) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T57T (p.Thr57Thr) variant details
- p.Thr57Thr
- gnomAD 3-193614861-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 6.95
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available