P35S (p.Pro35Ser) variant of DYRK1A (Q13627)
P35S (p.Pro35Ser) 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 0.51 / 1. The record also includes population frequency data and structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- rs968549141
- ClinGen CA320471869
- ClinVar RCV000502739
- TOPMed rs968549141
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- MetaLR 0.10
- MetaSVM -1.03
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available