R32G (p.Arg32Gly) variant of SLC47A1 (Q96FL8)
R32G (p.Arg32Gly) in SLC47A1 (Q96FL8) 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.
R32G (p.Arg32Gly) variant details
- p.Arg32Gly
- gnomAD 17-19534033-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.12
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available