V145I (p.Val145Ile) variant of C3 (Complement C3)
V145I (p.Val145Ile) 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 0.59 / 1. The record also includes population frequency data and structural context.
V145I (p.Val145Ile) variant details
- p.Val145Ile
- rs199970572
- ClinGen CA9129834
- ClinVar RCV001957080
- 1000Genomes rs199970572
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.54
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available