H5P (p.His5Pro) variant of VCL (Vinculin)
H5P (p.His5Pro) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
H5P (p.His5Pro) variant details
- p.His5Pro
- rs2136218216
- ClinGen CA377254547
- ClinVar RCV001361873
- Ensembl rs2136218216
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.69
- CADD 29.90
- 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 Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)