V37I (p.Val37Ile) variant of CAV3 (Caveolin-3)
V37I (p.Val37Ile) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
V37I (p.Val37Ile) variant details
- p.Val37Ile
- rs374523166
- ClinGen CA351661634
- ClinVar RCV003324252
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- ESM-1b 0.00
- AlphaMissense 0.53
- MetaLR 0.67
- MetaSVM 0.16
- PolyPhen-2 0.16
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available