T22I (p.Thr22Ile) variant of C5 (Complement C5)
T22I (p.Thr22Ile) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Complement component 5 deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T22I (p.Thr22Ile) variant details
- p.Thr22Ile
- rs142075999
- ClinGen CA5218497
- ClinVar RCV001336394
- ClinVar RCV001865847
- Uncertain significance
- Complement component 5 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -1.03
- CADD 21.60
- PolyPhen-2 0.33
- SIFT 0.16
- ClinVar: Uncertain significance (Complement component 5 deficiency; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available