S24N (p.Ser24Asn) variant of MAP2K1 (Q02750)
S24N (p.Ser24Asn) in MAP2K1 (Q02750) 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 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S24N (p.Ser24Asn) variant details
- p.Ser24Asn
- TOPMed rs1290055913
- gnomAD rs1290055913
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.24
- MetaLR 0.58
- MetaSVM -0.27
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.48
- 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