L10S (p.Leu10Ser) variant of C5 (Complement C5)
L10S (p.Leu10Ser) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L10S (p.Leu10Ser) variant details
- p.Leu10Ser
- Ensembl rs1588003925
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.28
- MetaLR 0.21
- MetaSVM -0.93
- CADD 27.00
- PolyPhen-2 0.79
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available