S124N (p.Ser124Asn) variant of C3 (Complement C3)
S124N (p.Ser124Asn) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S124N (p.Ser124Asn) variant details
- p.Ser124Asn
- rs201985442
- ClinGen CA9129841
- ClinVar RCV001910574
- 1000Genomes rs201985442
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.24
- AlphaMissense 0.87
- MetaLR 0.29
- MetaSVM -0.30
- CADD 24.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.01)
- Structural context available