I1615V (p.Ile1615Val) variant of CR1 (Complement receptor type 1)
I1615V (p.Ile1615Val) in CR1 (Complement receptor type 1) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
I1615V (p.Ile1615Val) variant details
- p.Ile1615Val
- rs6691117
- UniProt VAR 013824
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- AlphaMissense 0.08
- MetaLR 0.00
- MetaSVM -0.96
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (not provided)
- UniProt: Benign (in dbSNP:rs6691117)
- Structural context available
- 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: Human complement receptor type 1 (CR1) protein levels and genetic variants in chronic Chagas Disease. (PMID 29323238)