T3A (p.Thr3Ala) variant of DYRK1A (Q13627)
T3A (p.Thr3Ala) 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 0.36 / 1. The record also includes published literature and structural context.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- rs2148427299
- ClinGen CA409967804
- ClinVar RCV002136835
- Ensembl rs2148427299
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- AlphaMissense 0.07
- MetaLR 0.15
- MetaSVM -0.79
- PolyPhen-2 0.59
- SIFT 0.18
- MutPred 0.07
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)