S41G (p.Ser41Gly) variant of DYRK1A (Q13627)
S41G (p.Ser41Gly) 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 published literature and structural context.
S41G (p.Ser41Gly) variant details
- p.Ser41Gly
- rs2052270177
- ClinGen CA409942541
- ClinVar RCV001267544
- Ensembl rs2052270177
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.08
- MetaLR 0.27
- MetaSVM -0.76
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)