R43P (p.Arg43Pro) variant of DYRK1A (Q13627)
R43P (p.Arg43Pro) in DYRK1A (Q13627) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
R43P (p.Arg43Pro) variant details
- p.Arg43Pro
- rs750600368
- ClinGen CA409942556
- ClinVar RCV003528613
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.08
- MetaLR 0.12
- MetaSVM -1.03
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)