M2I (p.Met2Ile) variant of CAV3 (Caveolin-3)
M2I (p.Met2Ile) in CAV3 (Caveolin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
M2I (p.Met2Ile) variant details
- p.Met2Ile
- rs1060502318
- gnomAD 3-8733881-TGG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 27.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available