N32T (p.Asn32Thr) variant of C3 (Complement C3)
N32T (p.Asn32Thr) in C3 (Complement C3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
N32T (p.Asn32Thr) variant details
- p.Asn32Thr
- ExAC rs755012704
- TOPMed rs755012704
- gnomAD rs755012704
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.50
- CADD 24.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available