S25L (p.Ser25Leu) variant of MAP2K1 (Q02750)
S25L (p.Ser25Leu) in MAP2K1 (Q02750) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S25L (p.Ser25Leu) variant details
- p.Ser25Leu
- gnomAD 15-66387420-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 31.00
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- Literature evidence available