D48N (p.Asp48Asn) variant of C3 (Complement C3)
D48N (p.Asp48Asn) 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 0.31 / 1. The record also includes population frequency data and structural context.
D48N (p.Asp48Asn) variant details
- p.Asp48Asn
- ESP rs141447426
- ExAC rs141447426
- TOPMed rs141447426
- gnomAD rs141447426
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.23
- CADD 15.90
- PolyPhen-2 0.21
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00016)
- Structural context available