E21E (p.Glu21Glu) variant of CAV3 (Caveolin-3)
E21E (p.Glu21Glu) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E21E (p.Glu21Glu) variant details
- p.Glu21Glu
- rs1417709772
- gnomAD 3-8733939-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 12.90
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available