Q50E (p.Gln50Glu) variant of MAP2K2 (P36507)
Q50E (p.Gln50Glu) in MAP2K2 (P36507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
Q50E (p.Gln50Glu) variant details
- p.Gln50Glu
- Ensembl rs2145080632
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.67
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available