V121L (p.Val121Leu) variant of C3 (Complement C3)
V121L (p.Val121Leu) 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 0.40 / 1. The record also includes population frequency data and structural context.
V121L (p.Val121Leu) variant details
- p.Val121Leu
- rs2145436858
- ClinGen CA403645172
- ClinVar RCV001949723
- Ensembl rs2145436858
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.20
- CADD 16.60
- PolyPhen-2 0.12
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available