D16E (p.Asp16Glu) variant of MAP2K1 (Q02750)
D16E (p.Asp16Glu) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D16E (p.Asp16Glu) variant details
- p.Asp16Glu
- rs1330053912
- ClinGen CA392931620
- ClinVar RCV001302125
- ClinVar RCV005652598
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.36
- MetaLR 0.35
- MetaSVM -0.61
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score 0.408