I22N (p.Ile22Asn) variant of CAV3 (Caveolin-3)
I22N (p.Ile22Asn) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
I22N (p.Ile22Asn) variant details
- p.Ile22Asn
- gnomAD 3-8733941-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.87
- ESM-1b 0.00
- AlphaMissense 0.88
- MetaLR 0.86
- MetaSVM 0.91
- CADD 30.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available