L40V (p.Leu40Val) variant of VCL (Vinculin)
L40V (p.Leu40Val) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1W. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- rs1840154450
- ClinGen CA377255283
- ClinVar RCV002306223
- ClinVar RCV002337440
- Uncertain significance
- Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.19
- CADD 26.90
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)