V43M (p.Val43Met) variant of C3 (Complement C3)
V43M (p.Val43Met) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V43M (p.Val43Met) variant details
- p.Val43Met
- TOPMed rs1968117626
- gnomAD rs1968117626
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.36
- CADD 14.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available