E27D (p.Glu27Asp) variant of MAP2K2 (P36507)
E27D (p.Glu27Asp) 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 0.28 / 1. The record also includes population frequency data and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- Ensembl rs2145089756
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.22
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available