E45Q (p.Glu45Gln) variant of MAP2K2 (P36507)
E45Q (p.Glu45Gln) in MAP2K2 (P36507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E45Q (p.Glu45Gln) variant details
- p.Glu45Gln
- Ensembl rs2145080710
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.42
- CADD 23.20
- PolyPhen-2 0.46
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available