S57del (p.Ser57del) variant of DYRK1A (Q13627)
S57del (p.Ser57del) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S57del (p.Ser57del) variant details
- gnomAD 21-37472840-TATC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 19.10
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available