P154Q (p.Pro154Gln) variant of C5 (Complement C5)
P154Q (p.Pro154Gln) in C5 (Complement C5) is a missense change. 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.
P154Q (p.Pro154Gln) variant details
- p.Pro154Gln
- gnomAD rs2047542781
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.68
- MetaLR 0.66
- MetaSVM 0.47
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available