L9L (p.Leu9Leu) variant of CAV3 (Caveolin-3)
L9L (p.Leu9Leu) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L9L (p.Leu9Leu) variant details
- p.Leu9Leu
- rs1974763
- gnomAD 3-8733903-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 10.50
- Population evidence available
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)