W75C (p.Trp75Cys) variant of ABCC8 (Q09428)
W75C (p.Trp75Cys) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
W75C (p.Trp75Cys) variant details
- p.Trp75Cys
- TOPMed rs1407794908
- gnomAD rs1407794908
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.93
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available