L122P (p.Leu122Pro) variant of C3 (Complement C3)
L122P (p.Leu122Pro) in C3 (Complement C3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L122P (p.Leu122Pro) variant details
- p.Leu122Pro
- Ensembl rs768598098
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.51
- AlphaMissense 0.31
- MetaLR 0.28
- MetaSVM -0.50
- CADD 26.50
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available