P18S (p.Pro18Ser) variant of C3 (Complement C3)
P18S (p.Pro18Ser) 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 0.27 / 1. The record also includes population frequency data and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- rs1200505625
- ClinGen CA403646397
- ClinVar RCV003830103
- gnomAD rs1200505625
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.21
- CADD 18.70
- PolyPhen-2 0.02
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available