T47A (p.Thr47Ala) variant of C5 (Complement C5)
T47A (p.Thr47Ala) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- Ensembl rs2047627161
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.13
- MetaLR 0.11
- MetaSVM -0.94
- CADD 23.10
- PolyPhen-2 0.58
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available