V44E (p.Val44Glu) variant of CAV3 (Caveolin-3)
V44E (p.Val44Glu) in CAV3 (Caveolin-3) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
V44E (p.Val44Glu) variant details
- p.Val44Glu
- rs116840788
- ClinGen CA215190
- ClinVar RCV000024418
- UniProt VAR 021017
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in RMD2)
- UniProt: Pathogenic (in RMD2)
- Structural context available
- Cited in: Two novel CAV3 gene mutations in Japanese families. (PMID 15564037)
- Cited in: Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. (PMID 11001938)