S11N (p.Ser11Asn) variant of VCL (Vinculin)
S11N (p.Ser11Asn) 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; Cardiovascular phenotype; Dilated cardiomyopathy 1W. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S11N (p.Ser11Asn) variant details
- p.Ser11Asn
- rs777811020
- ClinGen CA5562696
- ClinVar RCV000645313
- ClinVar RCV000786269
- Uncertain significance
- not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.24
- CADD 27.20
- PolyPhen-2 0.48
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)