T30A (p.Thr30Ala) variant of C3 (Complement C3)
T30A (p.Thr30Ala) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T30A (p.Thr30Ala) variant details
- p.Thr30Ala
- rs2512272238
- ClinGen CA403646313
- ClinVar RCV003027640
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.12
- CADD 23.40
- PolyPhen-2 0.91
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available