K40Q (p.Lys40Gln) variant of MAP2K2 (P36507)
K40Q (p.Lys40Gln) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
K40Q (p.Lys40Gln) variant details
- p.Lys40Gln
- rs1321520649
- ClinGen CA403392927
- ClinVar RCV002351333
- ClinVar RCV006262438
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.68
- AlphaMissense 0.27
- MetaLR 0.78
- MetaSVM 0.64
- CADD 24.40
- PolyPhen-2 0.65
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available