L92F (p.Leu92Phe) variant of C5 (Complement C5)
L92F (p.Leu92Phe) in C5 (Complement C5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
L92F (p.Leu92Phe) variant details
- p.Leu92Phe
- rs1199947642
- gnomAD rs1199947642
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.01
- MetaLR 0.05
- MetaSVM -1.08
- CADD 7.02
- PolyPhen-2 0.02
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available