E48G (p.Glu48Gly) variant of MAP2K2 (P36507)
E48G (p.Glu48Gly) 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 0.68 / 1. The record also includes population frequency data and structural context.
E48G (p.Glu48Gly) variant details
- p.Glu48Gly
- rs1064793306
- ClinGen CA16620852
- ClinVar RCV000480980
- ClinVar RCV005090926
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.75
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available