P14T (p.Pro14Thr) variant of ABCC1 (P33527)
P14T (p.Pro14Thr) 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.
P14T (p.Pro14Thr) variant details
- p.Pro14Thr
- gnomAD 16-15949791-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.01
- CADD 18.80
- PolyPhen-2 0.02
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available