P14Q (p.Pro14Gln) variant of ABCC1 (P33527)
P14Q (p.Pro14Gln) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P14Q (p.Pro14Gln) variant details
- p.Pro14Gln
- gnomAD 16-15949792-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.07
- CADD 22.90
- PolyPhen-2 0.19
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available