A46V (p.Ala46Val) variant of CAV3 (Caveolin-3)
A46V (p.Ala46Val) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- rs116840773
- ClinGen CA119431
- ClinVar RCV000008775
- ClinVar RCV000024383
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in RMD2)
- UniProt: Pathogenic (in RMD2)
- Structural context available
- Cited in: Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. (PMID 11431690)
- Cited in: Molecular and muscle pathology in a series of caveolinopathy patients. (PMID 15580566)