E34D (p.Glu34Asp) variant of CAV3 (Caveolin-3)
E34D (p.Glu34Asp) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- gnomAD 3-8733978-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.37
- MetaSVM -0.73
- CADD 14.40
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available