F105L (p.Phe105Leu) variant of C3 (Complement C3)
F105L (p.Phe105Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
F105L (p.Phe105Leu) variant details
- p.Phe105Leu
- rs2512271099
- ClinGen CA403645272
- ClinVar RCV003894112
- ClinVar RCV006564446
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.09
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available