K65E (p.Lys65Glu) variant of C3 (Complement C3)
K65E (p.Lys65Glu) in C3 (Complement C3) 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 0.61 / 1. The record also includes structural context.
K65E (p.Lys65Glu) variant details
- p.Lys65Glu
- rs539992721
- ClinGen CA403646023
- ClinVar RCV003675054
- ExAC rs539992721
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.28
- MetaLR 0.65
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available