I6R (p.Ile6Arg) variant of C5 (Complement C5)
I6R (p.Ile6Arg) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I6R (p.Ile6Arg) variant details
- p.Ile6Arg
- rs375681125
- ClinGen CA5218507
- ClinVar RCV004429824
- ESP rs375681125
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.23
- MetaLR 0.07
- MetaSVM -1.00
- CADD 17.50
- PolyPhen-2 0.36
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00048)
- Structural context available