D55D (p.Asp55Asp) variant of CAV3 (Caveolin-3)
D55D (p.Asp55Asp) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
D55D (p.Asp55Asp) variant details
- p.Asp55Asp
- rs759446749
- gnomAD 3-8745576-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0946
- CADD 1.97
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available
- Literature evidence available