S8N (p.Ser8Asn) variant of ABCC1 (P33527)
S8N (p.Ser8Asn) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- TOPMed rs2045821155
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.05
- CADD 18.90
- PolyPhen-2 0.05
- SIFT 0.10
- Population evidence available
- Structural context available