I167F (p.Ile167Phe) variant of C3 (Complement C3)
I167F (p.Ile167Phe) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
I167F (p.Ile167Phe) variant details
- p.Ile167Phe
- rs779750426
- ClinGen CA9129806
- ClinVar RCV002594244
- ClinVar RCV005794356
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.46
- CADD 15.10
- PolyPhen-2 0.04
- SIFT 0.61
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)