K100N (p.Lys100Asn) variant of C3 (Complement C3)
K100N (p.Lys100Asn) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K100N (p.Lys100Asn) variant details
- p.Lys100Asn
- TOPMed rs1455156500
- gnomAD rs1455156500
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.04
- CADD 10.10
- PolyPhen-2 0.17
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available