K29N (p.Lys29Asn) variant of C5 (Complement C5)
K29N (p.Lys29Asn) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K29N (p.Lys29Asn) variant details
- p.Lys29Asn
- TOPMed rs1174368669
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.17
- MetaLR 0.13
- MetaSVM -0.95
- CADD 24.70
- PolyPhen-2 0.87
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available