E48K (p.Glu48Lys) variant of MAP2K2 (P36507)
E48K (p.Glu48Lys) 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 0.75 / 1. The record also includes population frequency data and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- gnomAD rs1295043645
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.72
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available