K115E (p.Lys115Glu) variant of C5 (Complement C5)
K115E (p.Lys115Glu) in C5 (Complement C5) 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 0.29 / 1. The record also includes population frequency data and structural context.
K115E (p.Lys115Glu) variant details
- p.Lys115Glu
- rs750310964
- ClinGen CA5218423
- ClinVar RCV002608961
- ExAC rs750310964
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.15
- MetaLR 0.06
- MetaSVM -1.07
- CADD 19.50
- PolyPhen-2 0.15
- SIFT 0.74
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available