D23E (p.Asp23Glu) variant of CAV3 (Caveolin-3)
D23E (p.Asp23Glu) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D23E (p.Asp23Glu) variant details
- p.Asp23Glu
- Ensembl rs1559640041
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.90
- MetaLR 0.70
- MetaSVM 0.17
- CADD 22.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available