R3K (p.Arg3Lys) variant of CPS1 (P31327)
R3K (p.Arg3Lys) in CPS1 (P31327) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
R3K (p.Arg3Lys) variant details
- p.Arg3Lys
- rs750705469
- ExAC rs750705469
- gnomAD rs750705469
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 0.42
- MetaLR 0.88
- MetaSVM 0.98
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available