I22V (p.Ile22Val) variant of CAV3 (Caveolin-3)
I22V (p.Ile22Val) 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.
I22V (p.Ile22Val) variant details
- p.Ile22Val
- TOPMed rs1466068629
- gnomAD rs1466068629
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.44
- MetaLR 0.74
- MetaSVM 0.33
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available