L4F (p.Leu4Phe) variant of C5 (Complement C5)
L4F (p.Leu4Phe) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- rs35352264
- ClinGen CA5218510
- ClinVar RCV002189563
- ESP rs35352264
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.06
- CADD 13.60
- PolyPhen-2 0.23
- SIFT 0.07
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available