R43C (p.Arg43Cys) variant of DYRK1A (Q13627)
R43C (p.Arg43Cys) in DYRK1A (Q13627) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- rs367984873
- ClinGen CA10023713
- cosmic curated COSV10885
- ClinVar RCV000814785
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- MetaLR 0.09
- MetaSVM -1.05
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.15
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)