S23F (p.Ser23Phe) variant of MAP2K2 (P36507)
S23F (p.Ser23Phe) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S23F (p.Ser23Phe) variant details
- p.Ser23Phe
- TOPMed rs2041335185
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.24
- AlphaMissense 0.08
- MetaLR 0.16
- MetaSVM -0.92
- CADD 24.80
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available