Q12L (p.Gln12Leu) variant of CAV3 (Caveolin-3)
Q12L (p.Gln12Leu) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
Q12L (p.Gln12Leu) variant details
- p.Gln12Leu
- cosmic curated COSV59562
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.48
- MetaSVM -0.35
- SIFT 0.10
- Structural context available