R44H (p.Arg44His) variant of DYRK1A (Q13627)
R44H (p.Arg44His) in DYRK1A (Q13627) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R44H (p.Arg44His) variant details
- p.Arg44His
- rs780254690
- ClinGen CA10023716
- NCI-TCGA Cosmic COSV5829
- ClinVar RCV002385653
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- MetaLR 0.06
- MetaSVM -1.00
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- 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)