V14I (p.Val14Ile) variant of CAV3 (Caveolin-3)
V14I (p.Val14Ile) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V14I (p.Val14Ile) variant details
- p.Val14Ile
- rs121909281
- ClinGen CA175387
- ClinVar RCV000150234
- ClinVar RCV000619202
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.41
- MetaSVM -0.63
- CADD 16.90
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Cardiomyopathy)
- EBI: Pathogenic (in SIDS)
- UniProt: Pathogenic (in SIDS)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)