V39M (p.Val39Met) variant of CAV3 (Caveolin-3)
V39M (p.Val39Met) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- cosmic curated COSV57479
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.71
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available