K82E (p.Lys82Glu) variant of F8 (Coagulation factor VIII)
K82E (p.Lys82Glu) in F8 (Coagulation factor VIII) 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 0.82 / 1. The record also includes population frequency data and structural context.
K82E (p.Lys82Glu) variant details
- p.Lys82Glu
- rs1283070296
- ClinGen CA414920190
- ClinVar RCV000757248
- TOPMed rs1283070296
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 0.48
- MetaLR 0.96
- MetaSVM 1.13
- PolyPhen-2 1.00
- SIFT 0.08
- EVE 0.73
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available