T120I (p.Thr120Ile) variant of C5 (Complement C5)
T120I (p.Thr120Ile) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T120I (p.Thr120Ile) variant details
- p.Thr120Ile
- rs761174155
- ClinGen CA5218418
- ClinVar RCV004429826
- ExAC rs761174155
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.04
- CADD 19.80
- PolyPhen-2 0.06
- SIFT 0.28
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available