V141L (p.Val141Leu) variant of C5 (Complement C5)
V141L (p.Val141Leu) in C5 (Complement C5) 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 0.65 / 1. The record also includes population frequency data and structural context.
V141L (p.Val141Leu) variant details
- p.Val141Leu
- rs1053064557
- ClinGen CA199354033
- ClinVar RCV002601681
- TOPMed rs1053064557
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.64
- MetaLR 0.77
- MetaSVM 0.77
- CADD 35.00
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available