P38L (p.Pro38Leu) variant of VCL (Vinculin)
P38L (p.Pro38Leu) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1W. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- rs1060502194
- ClinGen CA16612941
- ClinVar RCV000462199
- Ensembl rs1060502194
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.47
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)