A83S (p.Ala83Ser) variant of C5 (Complement C5)
A83S (p.Ala83Ser) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A83S (p.Ala83Ser) variant details
- p.Ala83Ser
- rs748797024
- ClinGen CA5218451
- ClinVar RCV002050836
- ExAC rs748797024
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.18
- MetaLR 0.19
- MetaSVM -0.69
- CADD 19.60
- PolyPhen-2 0.21
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.8e-05)
- Structural context available