S147L (p.Ser147Leu) variant of C5 (Complement C5)
S147L (p.Ser147Leu) 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 0.71 / 1. The record also includes population frequency data and structural context.
S147L (p.Ser147Leu) variant details
- p.Ser147Leu
- rs544818019
- NCI-TCGA Cosmic COSV5632
- 1000Genomes rs544818019
- ExAC rs544818019
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.67
- MetaLR 0.60
- MetaSVM 0.33
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available