K1590E (p.Lys1590Glu) variant of CR1 (Complement receptor type 1)
K1590E (p.Lys1590Glu) 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 0.21 / 1. The record also includes published literature and structural context.
K1590E (p.Lys1590Glu) variant details
- p.Lys1590Glu
- rs17047660
- UniProt VAR 013821
- Benign
- CR1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- AlphaMissense 0.17
- MetaLR 0.00
- MetaSVM -1.07
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Benign (CR1-related disorder)
- EBI: Benign (in MCC(b) antigen)
- UniProt: Benign (in MCC(b) 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)