E77Q (p.Glu77Gln) variant of MAPK3 (P27361)
E77Q (p.Glu77Gln) 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 0.52 / 1. The record also includes population frequency data and structural context.
E77Q (p.Glu77Gln) variant details
- p.Glu77Gln
- rs778826879
- ClinGen CA8002908
- ClinVar RCV004309401
- ExAC rs778826879
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.34
- CADD 26.40
- PolyPhen-2 0.76
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available