A27T (p.Ala27Thr) variant of C5 (Complement C5)
A27T (p.Ala27Thr) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- TOPMed rs202155041
- gnomAD rs202155041
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.18
- MetaLR 0.13
- MetaSVM -0.97
- CADD 25.00
- PolyPhen-2 0.64
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available