T51T (p.Thr51Thr) variant of CAV3 (Caveolin-3)
T51T (p.Thr51Thr) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T51T (p.Thr51Thr) variant details
- p.Thr51Thr
- rs375087776
- gnomAD 3-8745564-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 8.69
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available