R27E (p.Arg27Glu) variant of CAV3 (Caveolin-3)
R27E (p.Arg27Glu) in CAV3 (Caveolin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R27E (p.Arg27Glu) variant details
- p.Arg27Glu
- gnomAD 3-8733953-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 25.50
- Population evidence available
- Structural context available
- Literature evidence available