T22A (p.Thr22Ala) variant of C5 (Complement C5)
T22A (p.Thr22Ala) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Complement component 5 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T22A (p.Thr22Ala) variant details
- p.Thr22Ala
- rs564964646
- ClinGen CA5218498
- ClinVar RCV002075549
- ClinVar RCV003339917
- Conflicting interpretations
- not provided; Complement component 5 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.25
- MetaLR 0.12
- MetaSVM -0.90
- CADD 29.00
- PolyPhen-2 0.70
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Complement component 5 deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:BEB population (allele frequency 0.015)
- Structural context available