Y46H (p.Tyr46His) variant of C5 (Complement C5)
Y46H (p.Tyr46His) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Y46H (p.Tyr46His) variant details
- p.Tyr46His
- rs1235410014
- ClinGen CA374732792
- ClinVar RCV004303776
- gnomAD rs1235410014
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.18
- MetaLR 0.07
- MetaSVM -0.97
- CADD 25.60
- PolyPhen-2 0.46
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available