P2A (p.Pro2Ala) variant of VCL (Vinculin)
P2A (p.Pro2Ala) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dilated cardiomyopathy 1W. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P2A (p.Pro2Ala) variant details
- p.Pro2Ala
- rs929741279
- ClinGen CA209683515
- ClinVar RCV002910231
- ClinVar RCV003128956
- Uncertain significance
- not provided; Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.52
- CADD 25.30
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)