S41T (p.Ser41Thr) variant of DYRK1A (Q13627)
S41T (p.Ser41Thr) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S41T (p.Ser41Thr) variant details
- p.Ser41Thr
- rs754161665
- ClinGen CA10023712
- ClinVar RCV003819233
- ExAC rs754161665
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- MetaLR 0.29
- MetaSVM -0.67
- CADD 25.00
- PolyPhen-2 0.92
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)