R43S (p.Arg43Ser) variant of DYRK1A (Q13627)
R43S (p.Arg43Ser) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R43S (p.Arg43Ser) variant details
- p.Arg43Ser
- rs367984873
- ClinGen CA409942554
- ClinVar RCV001899475
- NCI-TCGA TCGA novel
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- MetaLR 0.09
- MetaSVM -1.04
- CADD 22.50
- PolyPhen-2 0.10
- SIFT 0.52
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)