P170L (p.Pro170Leu) variant of C3 (Complement C3)
P170L (p.Pro170Leu) 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 0.76 / 1. The record also includes population frequency data and structural context.
P170L (p.Pro170Leu) variant details
- p.Pro170Leu
- rs771707355
- NCI-TCGA Cosmic COSV9983
- ExAC rs771707355
- gnomAD rs771707355
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.76
- AlphaMissense 0.51
- MetaLR 0.71
- MetaSVM 0.66
- CADD 24.60
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available