R43H (p.Arg43His) variant of DYRK1A (Q13627)
R43H (p.Arg43His) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- rs750600368
- ClinGen CA10023714
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10011
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- AlphaMissense 0.08
- MetaLR 0.12
- MetaSVM -1.03
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)