E27K (p.Glu27Lys) variant of MAP2K2 (P36507)
E27K (p.Glu27Lys) in MAP2K2 (P36507) 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 0.41 / 1. The record also includes population frequency data and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- rs1414051360
- ClinGen CA403395939
- ClinVar RCV002904875
- gnomAD rs1414051360
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.20
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.71
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available