P14L (p.Pro14Leu) variant of ABCC1 (P33527)
P14L (p.Pro14Leu) 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 and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- TOPMed rs2045821860
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.02
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available