S8R (p.Ser8Arg) variant of ABCC1 (P33527)
S8R (p.Ser8Arg) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S8R (p.Ser8Arg) variant details
- p.Ser8Arg
- gnomAD 16-15949775-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.05
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available