E10E (p.Glu10Glu) variant of CAV3 (Caveolin-3)
E10E (p.Glu10Glu) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E10E (p.Glu10Glu) variant details
- p.Glu10Glu
- rs587780883
- gnomAD 3-8733906-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 10.10
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Literature evidence available