W28C (p.Trp28Cys) variant of APOA5 (Apolipoprotein A-V)
W28C (p.Trp28Cys) in APOA5 (Apolipoprotein A-V) 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 0.66 / 1. The record also includes population frequency data and structural context.
W28C (p.Trp28Cys) variant details
- p.Trp28Cys
- TOPMed rs1473900842
- gnomAD rs1473900842
- cosmic curated COSV10505
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.57
- CADD 27.40
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available