P40L (p.Pro40Leu) variant of MAPK3 (P27361)
P40L (p.Pro40Leu) in MAPK3 (P27361) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- ExAC rs755905535
- TOPMed rs755905535
- gnomAD rs755905535
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.15
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available