S46C (p.Ser46Cys) variant of CSRP3 (P50461)
S46C (p.Ser46Cys) in CSRP3 (P50461) 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 0.85 / 1. The record also includes structural context.
S46C (p.Ser46Cys) variant details
- p.Ser46Cys
- rs137852765
- ClinGen CA379888401
- ClinVar RCV002383663
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available