I36M (p.Ile36Met) variant of CAV3 (Caveolin-3)
I36M (p.Ile36Met) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I36M (p.Ile36Met) variant details
- p.Ile36Met
- gnomAD 3-8733984-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.45
- MetaSVM -0.71
- CADD 8.82
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available