E5Q (p.Glu5Gln) variant of CAV3 (Caveolin-3)
E5Q (p.Glu5Gln) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E5Q (p.Glu5Gln) variant details
- p.Glu5Gln
- gnomAD 3-8733889-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.63
- MetaSVM 0.02
- CADD 22.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available