V55A (p.Val55Ala) variant of C3 (Complement C3)
V55A (p.Val55Ala) 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 0.37 / 1. The record also includes population frequency data and structural context.
V55A (p.Val55Ala) variant details
- p.Val55Ala
- rs1477866705
- ClinGen CA403646134
- ClinVar RCV003080109
- gnomAD rs1477866705
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.23
- CADD 19.30
- PolyPhen-2 0.04
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available