D33G (p.Asp33Gly) variant of VCL (Vinculin)
D33G (p.Asp33Gly) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D33G (p.Asp33Gly) variant details
- p.Asp33Gly
- rs1840154118
- ClinGen CA377255204
- ClinVar RCV001237310
- Ensembl rs1840154118
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.39
- CADD 32.00
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)