E96Q (p.Glu96Gln) variant of MAPK1 (P28482)
E96Q (p.Glu96Gln) in MAPK1 (P28482) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E96Q (p.Glu96Gln) variant details
- p.Glu96Gln
- 1000Genomes rs530183395
- ExAC rs530183395
- TOPMed rs530183395
- gnomAD rs530183395
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.09
- CADD 23.00
- PolyPhen-2 0.16
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- MAPK1 VRT-11E: score 6.8