M2V (p.Met2Val) variant of CAV3 (Caveolin-3)
M2V (p.Met2Val) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
M2V (p.Met2Val) variant details
- p.Met2Val
- TOPMed rs1490110206
- gnomAD rs1490110206
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.72
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.66
- MetaSVM 0.38
- CADD 22.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available