I41V (p.Ile41Val) variant of C5 (Complement C5)
I41V (p.Ile41Val) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I41V (p.Ile41Val) variant details
- p.Ile41Val
- gnomAD rs2047627351
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -0.98
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available