S57P (p.Ser57Pro) variant of DYRK1A (Q13627)
S57P (p.Ser57Pro) in DYRK1A (Q13627) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S57P (p.Ser57Pro) variant details
- p.Ser57Pro
- rs1049763
- ClinGen CA10023719
- ClinVar RCV000806873
- ClinVar RCV005328401
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- MetaLR 0.03
- MetaSVM -1.02
- CADD 8.73
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)