N47D (p.Asn47Asp) variant of DYRK1A (Q13627)
N47D (p.Asn47Asp) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
N47D (p.Asn47Asp) variant details
- p.Asn47Asp
- rs1569354907
- ClinGen CA409942577
- ClinVar RCV000705630
- Ensembl rs1569354907
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- MetaLR 0.10
- MetaSVM -1.04
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.47
- 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)