I18F (p.Ile18Phe) variant of MAP2K2 (P36507)
I18F (p.Ile18Phe) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I18F (p.Ile18Phe) variant details
- p.Ile18Phe
- rs774968670
- ClinGen CA403395995
- ClinVar RCV001357033
- ExAC rs774968670
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.25
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -1.13
- CADD 22.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available