A26T (p.Ala26Thr) variant of DYRK1A (Q13627)
A26T (p.Ala26Thr) in DYRK1A (Q13627) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DYRK1A-related intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs2148556430
- ClinGen CA409942344
- ClinVar RCV002019009
- Ensembl rs2148556430
- Uncertain significance
- DYRK1A-related intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- MetaLR 0.34
- MetaSVM -0.47
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.11
- ClinVar: Uncertain significance (DYRK1A-related intellectual disability syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)