E12Q (p.Glu12Gln) variant of MAPK1 (P28482)
E12Q (p.Glu12Gln) in MAPK1 (P28482) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E12Q (p.Glu12Gln) variant details
- p.Glu12Gln
- cosmic curated COSV10605
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.35
- CADD 23.60
- PolyPhen-2 0.82
- SIFT 0.08
- Population evidence available
- Structural context available
- MAPK1 SCH772984: score 5.22