G22R (p.Gly22Arg) variant of SLC47A1 (Q96FL8)
G22R (p.Gly22Arg) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- gnomAD 17-19534003-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0722
- REVEL 0.01
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available