A11T (p.Ala11Thr) variant of CAV3 (Caveolin-3)
A11T (p.Ala11Thr) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- Ensembl rs991036167
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.55
- MetaSVM -0.19
- SIFT 0.18
- Structural context available