E20K (p.Glu20Lys) variant of MAP2K2 (P36507)
E20K (p.Glu20Lys) 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; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- rs2145089829
- ClinGen CA403395984
- ClinVar RCV003877338
- ClinVar RCV006270616
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.36
- AlphaMissense 0.06
- MetaLR 0.14
- MetaSVM -1.04
- CADD 22.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available