A30A (p.Ala30Ala) variant of SLC47A1 (Q96FL8)
A30A (p.Ala30Ala) in SLC47A1 (Q96FL8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A30A (p.Ala30Ala) variant details
- p.Ala30Ala
- rs1220273399
- gnomAD 17-19534029-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 11.60
- Population evidence available
- Structural context available
- Literature evidence available