P48S (p.Pro48Ser) variant of CAV3 (Caveolin-3)
P48S (p.Pro48Ser) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- cosmic curated COSV57480
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.97
- SIFT 0.00
- Structural context available