L40L (p.Leu40Leu) variant of VCL (Vinculin)
L40L (p.Leu40Leu) in VCL (Vinculin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L40L (p.Leu40Leu) variant details
- p.Leu40Leu
- rs144080529
- gnomAD 10-73998327-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 15.20
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)