S24G (p.Ser24Gly) variant of MAP2K1 (Q02750)
S24G (p.Ser24Gly) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S24G (p.Ser24Gly) variant details
- p.Ser24Gly
- rs2093344167
- ClinGen CA392931714
- ClinVar RCV001238194
- Ensembl rs2093344167
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.34
- MetaLR 0.49
- MetaSVM -0.34
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.126