V134I (p.Val134Ile) variant of C5 (Complement C5)
V134I (p.Val134Ile) 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 0.31 / 1. The record also includes structural context.
V134I (p.Val134Ile) variant details
- p.Val134Ile
- rs2047594261
- ClinGen CA374729463
- ClinVar RCV002617668
- TOPMed rs2047594261
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.07
- MetaLR 0.09
- MetaSVM -1.00
- PolyPhen-2 0.01
- SIFT 0.35
- MutPred 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available