P98A (p.Pro98Ala) variant of C5 (Complement C5)
P98A (p.Pro98Ala) in C5 (Complement C5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
P98A (p.Pro98Ala) variant details
- p.Pro98Ala
- TOPMed rs1472937845
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0888
- REVEL 0.04
- AlphaMissense 0.06
- MetaLR 0.05
- MetaSVM -1.03
- CADD 0.15
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available