Y58C (p.Tyr58Cys) variant of DYRK1A (Q13627)
Y58C (p.Tyr58Cys) in DYRK1A (Q13627) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Y58C (p.Tyr58Cys) variant details
- p.Tyr58Cys
- rs1041691170
- ClinGen CA320471990
- ClinVar RCV001208618
- ClinVar RCV002402612
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- MetaLR 0.29
- MetaSVM -0.62
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.08
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)