T16S (p.Thr16Ser) variant of C5 (Complement C5)
T16S (p.Thr16Ser) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T16S (p.Thr16Ser) variant details
- p.Thr16Ser
- gnomAD rs1434582816
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.17
- MetaLR 0.03
- MetaSVM -1.09
- CADD 6.99
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available