P1827R (p.Pro1827Arg) variant of CR1 (Complement receptor type 1)
P1827R (p.Pro1827Arg) in CR1 (Complement receptor type 1) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of CR1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature.
P1827R (p.Pro1827Arg) variant details
- p.Pro1827Arg
- rs3811381
- UniProt VAR 013825
- Benign
- CR1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.09
- PolyPhen-2 0.95
- SIFT 0.11
- MutPred 0.49
- ClinVar: Benign (CR1-related disorder)
- UniProt: Benign (in dbSNP:rs3811381)
- 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)