L3I (p.Leu3Ile) variant of ABCC1 (P33527)
L3I (p.Leu3Ile) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L3I (p.Leu3Ile) variant details
- p.Leu3Ile
- gnomAD 16-15949758-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.06
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available