A31T (p.Ala31Thr) variant of DYRK1A (Q13627)
A31T (p.Ala31Thr) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- rs765791729
- ClinGen CA10023707
- ClinVar RCV003641507
- ExAC rs765791729
- Uncertain significance
- DYRK1A-related intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- MetaLR 0.28
- MetaSVM -0.64
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.22
- ClinVar: Uncertain significance (DYRK1A-related intellectual disability syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)