G32V (p.Gly32Val) variant of DYRK1A (Q13627)
G32V (p.Gly32Val) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G32V (p.Gly32Val) variant details
- p.Gly32Val
- rs1049756
- ClinGen CA409942430
- ClinVar RCV003067018
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- MetaLR 0.11
- MetaSVM -0.91
- CADD 23.10
- PolyPhen-2 0.20
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)