P35T (p.Pro35Thr) variant of DYRK1A (Q13627)
P35T (p.Pro35Thr) 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 0.53 / 1. The record also includes population frequency data and structural context.
P35T (p.Pro35Thr) variant details
- p.Pro35Thr
- TOPMed rs968549141
- gnomAD rs968549141
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- MetaLR 0.12
- MetaSVM -0.96
- CADD 22.90
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available