S18F (p.Ser18Phe) variant of MAP2K1 (Q02750)
S18F (p.Ser18Phe) 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 0.62 / 1. The record also includes population frequency data and structural context.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- TOPMed rs1349988835
- gnomAD rs1349988835
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.55
- AlphaMissense 0.08
- MetaLR 0.79
- MetaSVM 0.61
- CADD 24.10
- PolyPhen-2 0.24
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available