S24T (p.Ser24Thr) variant of MAP2K1 (Q02750)
S24T (p.Ser24Thr) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Melorheostosis; Cardiofaciocutaneous syndrome 3; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S24T (p.Ser24Thr) variant details
- p.Ser24Thr
- rs1290055913
- ClinGen CA392931719
- ClinVar RCV001059941
- ClinVar RCV005005019
- Uncertain significance
- Melorheostosis; Cardiofaciocutaneous syndrome 3; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.28
- MetaLR 0.53
- MetaSVM -0.39
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (Melorheostosis; Cardiofaciocutaneous syndrome 3; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.126
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)