P89Q (p.Pro89Gln) variant of C5 (Complement C5)
P89Q (p.Pro89Gln) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P89Q (p.Pro89Gln) variant details
- p.Pro89Gln
- gnomAD rs1464480826
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.30
- MetaLR 0.17
- MetaSVM -0.87
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available