S8I (p.Ser8Ile) variant of ABCC1 (P33527)
S8I (p.Ser8Ile) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S8I (p.Ser8Ile) variant details
- p.Ser8Ile
- gnomAD 16-15949774-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.06
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available