E31K (p.Glu31Lys) variant of MAP2K2 (P36507)
E31K (p.Glu31Lys) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs2145089707
- ClinGen CA403395916
- ClinVar RCV004517802
- Ensembl rs2145089707
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.37
- CADD 21.10
- PolyPhen-2 0.02
- SIFT 0.48
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available