G12R (p.Gly12Arg) variant of SLC47A1 (Q96FL8)
G12R (p.Gly12Arg) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- ExAC rs780125876
- gnomAD rs780125876
- Missense
- Variant Prioritization Score for Impact Estimate 0.0403
- REVEL 0.00
- CADD 3.43
- PolyPhen-2 0.01
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available