D43D (p.Asp43Asp) variant of CAV3 (Caveolin-3)
D43D (p.Asp43Asp) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D43D (p.Asp43Asp) variant details
- p.Asp43Asp
- rs374584030
- gnomAD 3-8745540-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0849
- CADD 0.60
- Most common in the HGDP:HEZHEN population (allele frequency 0.062)
- Structural context available
- Literature evidence available