V123L (p.Val123Leu) variant of C3 (Complement C3)
V123L (p.Val123Leu) 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 0.15 / 1. The record also includes population frequency data and structural context.
V123L (p.Val123Leu) variant details
- p.Val123Leu
- TOPMed rs1265210034
- gnomAD rs1265210034
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.04
- AlphaMissense 0.24
- MetaLR 0.05
- MetaSVM -1.05
- CADD 7.90
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available