I13M (p.Ile13Met) variant of CAV3 (Caveolin-3)
I13M (p.Ile13Met) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I13M (p.Ile13Met) variant details
- p.Ile13Met
- gnomAD 3-8733915-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.71
- MetaSVM 0.20
- CADD 22.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available