R50Q (p.Arg50Gln) variant of MAPK1 (P28482)
R50Q (p.Arg50Gln) in MAPK1 (P28482) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
R50Q (p.Arg50Gln) variant details
- p.Arg50Gln
- ExAC rs754193785
- gnomAD rs754193785
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.32
- CADD 25.10
- PolyPhen-2 0.66
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- MAPK1 DOX: score 7.95