D122V (p.Asp122Val) variant of C5 (Complement C5)
D122V (p.Asp122Val) 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 0.34 / 1. The record also includes structural context.
D122V (p.Asp122Val) variant details
- p.Asp122Val
- rs2131818378
- ClinGen CA374729705
- ClinVar RCV001986570
- Ensembl rs2131818378
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.15
- MetaLR 0.09
- MetaSVM -1.11
- PolyPhen-2 0.94
- SIFT 0.39
- MutPred 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available