P63S (p.Pro63Ser) variant of C3 (Complement C3)
P63S (p.Pro63Ser) 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 0.70 / 1. The record also includes structural context.
P63S (p.Pro63Ser) variant details
- p.Pro63Ser
- rs2145438093
- ClinGen CA403646042
- ClinVar RCV001943937
- Ensembl rs2145438093
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.46
- MetaLR 0.76
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available