K372R (p.Lys372Arg) variant of C5 (Complement C5)
K372R (p.Lys372Arg) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Complement component 5 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K372R (p.Lys372Arg) variant details
- p.Lys372Arg
- rs587776846
- ClinGen CA127058
- ClinVar RCV000018581
- Ensembl rs587776846
- Pathogenic
- Complement component 5 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.07
- CADD 32.00
- PolyPhen-2 0.64
- SIFT 0.19
- ClinVar: Pathogenic (Complement component 5 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Linking C5 deficiency to an exonic splicing enhancer mutation. (PMID 15778377)