S18C (p.Ser18Cys) variant of MAP2K1 (Q02750)
S18C (p.Ser18Cys) in MAP2K1 (Q02750) 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 0.61 / 1. The record also includes structural context.
S18C (p.Ser18Cys) variant details
- p.Ser18Cys
- rs1349988835
- ClinGen CA392931644
- ClinVar RCV000995375
- TOPMed rs1349988835
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- AlphaMissense 0.08
- MetaLR 0.79
- MetaSVM 0.61
- PolyPhen-2 0.24
- SIFT 0.01
- MutPred 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available