A32A (p.Ala32Ala) variant of MAP2K1 (Q02750)
A32A (p.Ala32Ala) in MAP2K1 (Q02750) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A32A (p.Ala32Ala) variant details
- p.Ala32Ala
- rs781144142
- gnomAD 15-66435042-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 11.20
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score 1.25
- Literature evidence available