P75L (p.Pro75Leu) variant of VCL (Vinculin)
P75L (p.Pro75Leu) 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; Dilated cardiomyopathy 1W; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P75L (p.Pro75Leu) variant details
- p.Pro75Leu
- rs373830664
- ClinGen CA335607
- ClinVar RCV000183986
- ClinVar RCV000815842
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1W; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.24
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1W; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.0099)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)