N38Y (p.Asn38Tyr) variant of C5 (Complement C5)
N38Y (p.Asn38Tyr) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N38Y (p.Asn38Tyr) variant details
- p.Asn38Tyr
- gnomAD rs1308644755
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.23
- MetaLR 0.19
- MetaSVM -0.48
- CADD 25.20
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available