P170R (p.Pro170Arg) variant of C3 (Complement C3)
P170R (p.Pro170Arg) 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 0.77 / 1. The record also includes structural context.
P170R (p.Pro170Arg) variant details
- p.Pro170Arg
- rs771707355
- ClinGen CA403643684
- ClinVar RCV002017917
- ExAC rs771707355
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- AlphaMissense 0.51
- MetaLR 0.71
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available