R1601G (p.Arg1601Gly) variant of CR1 (Complement receptor type 1)
R1601G (p.Arg1601Gly) in CR1 (Complement receptor type 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.24 / 1. The record also includes published literature and structural context.
R1601G (p.Arg1601Gly) variant details
- p.Arg1601Gly
- rs17047661
- UniProt VAR 013822
- Benign
- CR1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- AlphaMissense 0.22
- MetaLR 0.00
- MetaSVM -0.91
- PolyPhen-2 0.26
- SIFT 0.37
- ClinVar: Benign (CR1-related disorder)
- EBI: Benign (in Sl(2)/Vil antigen and Sl(3) antigen)
- UniProt: Benign (in Sl(2)/Vil antigen and Sl(3) antigen)
- Structural context available
- Cited in: CR1 variants contribute to FSGS susceptibility across multiple populations. (PMID 40241753)
- Cited in: Complement receptor type 1 and 2 (CR1 and CR2) gene polymorphisms and plasma protein levels are associated with the… (PMID 37833411)