Q34R (p.Gln34Arg) variant of ABCC1 (P33527)
Q34R (p.Gln34Arg) in ABCC1 (P33527) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q34R (p.Gln34Arg) variant details
- p.Gln34Arg
- gnomAD 16-16007868-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.40
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available