S52N (p.Ser52Asn) variant of VCL (Vinculin)
S52N (p.Ser52Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
S52N (p.Ser52Asn) variant details
- p.Ser52Asn
- rs886047216
- ClinGen CA377255484
- ClinVar RCV004267396
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- AlphaMissense 0.11
- MetaLR 0.13
- MetaSVM -0.74
- PolyPhen-2 0.68
- SIFT 0.06
- EVE 0.16
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available