N53S (p.Asn53Ser) variant of VCL (Vinculin)
N53S (p.Asn53Ser) 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. 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.
N53S (p.Asn53Ser) variant details
- p.Asn53Ser
- rs751938777
- ClinGen CA5562707
- ClinVar RCV000477949
- ClinVar RCV001236153
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.35
- CADD 28.50
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)