L17P (p.Leu17Pro) variant of C3 (Complement C3)
L17P (p.Leu17Pro) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- Ensembl rs868462118
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.53
- CADD 19.00
- PolyPhen-2 0.35
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available