N32I (p.Asn32Ile) variant of C3 (Complement C3)
N32I (p.Asn32Ile) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
N32I (p.Asn32Ile) variant details
- p.Asn32Ile
- rs755012704
- ClinGen CA9129900
- ClinVar RCV002634904
- ClinVar RCV003308186
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.60
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)