K15Q (p.Lys15Gln) variant of C5 (Complement C5)
K15Q (p.Lys15Gln) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K15Q (p.Lys15Gln) variant details
- p.Lys15Gln
- ESP rs138873824
- TOPMed rs138873824
- gnomAD rs138873824
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.06
- CADD 14.60
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available