D13E (p.Asp13Glu) variant of ABCC1 (P33527)
D13E (p.Asp13Glu) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
D13E (p.Asp13Glu) variant details
- p.Asp13Glu
- gnomAD 16-15949790-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.04
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available