N1540S (p.Asn1540Ser) variant of CR1 (Complement receptor type 1)
N1540S (p.Asn1540Ser) 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 0.23 / 1. The record also includes published literature.
N1540S (p.Asn1540Ser) variant details
- p.Asn1540Ser
- rs17259045
- UniProt VAR 055685
- Benign
- CR1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- AlphaMissense 0.06
- MetaLR 0.00
- MetaSVM -1.08
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Benign (CR1-related disorder)
- UniProt: Benign (in dbSNP:rs17259045)
- Cited in: Complement receptor type 1 and 2 (CR1 and CR2) gene polymorphisms and plasma protein levels are associated with the… (PMID 37833411)
- Cited in: Impacts of CR1 genetic variants on cerebrospinal fluid and neuroimaging biomarkers in alzheimer's disease. (PMID 32919460)