Y147H (p.Tyr147His) variant of C3 (Complement C3)
Y147H (p.Tyr147His) in C3 (Complement C3) is a missense change. Clinical records from ClinVar 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 0.53 / 1. The record also includes population frequency data and structural context.
Y147H (p.Tyr147His) variant details
- p.Tyr147His
- ExAC rs767731378
- gnomAD rs767731378
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.48
- CADD 22.80
- PolyPhen-2 0.28
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available