T7A (p.Thr7Ala) variant of DYRK1A (Q13627)
T7A (p.Thr7Ala) in DYRK1A (Q13627) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T7A (p.Thr7Ala) variant details
- p.Thr7Ala
- rs2052265794
- ClinGen CA409942077
- ClinVar RCV001232564
- ClinVar RCV001564383
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- MetaLR 0.32
- MetaSVM -0.45
- CADD 27.10
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)