P40Q (p.Pro40Gln) variant of MAPK3 (P27361)
P40Q (p.Pro40Gln) in MAPK3 (P27361) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P40Q (p.Pro40Gln) variant details
- p.Pro40Gln
- ExAC rs755905535
- TOPMed rs755905535
- gnomAD rs755905535
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.16
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available