S11G (p.Ser11Gly) variant of VCL (Vinculin)
S11G (p.Ser11Gly) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S11G (p.Ser11Gly) variant details
- p.Ser11Gly
- rs397517240
- ClinGen CA136773
- ClinVar RCV000038824
- gnomAD rs397517240
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.31
- CADD 28.80
- PolyPhen-2 0.66
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available