H1208R (p.His1208Arg) variant of CR1 (Complement receptor type 1)
H1208R (p.His1208Arg) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature.
H1208R (p.His1208Arg) variant details
- p.His1208Arg
- rs2274567
- UniProt VAR 013819
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- AlphaMissense 0.11
- MetaLR 0.00
- MetaSVM -1.07
- PolyPhen-2 0.15
- SIFT 0.90
- Cited in: Genetic and Epigenetic Dysregulation of CR1 is Associated with Catastrophic Antiphospholipid Syndrome (CAPS). (PMID 40385421)
- Cited in: Complement receptor type 1 and 2 (CR1 and CR2) gene polymorphisms and plasma protein levels are associated with the⦠(PMID 37833411)