A3A (p.Ala3Ala) variant of SLC47A1 (Q96FL8)
A3A (p.Ala3Ala) in SLC47A1 (Q96FL8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- gnomAD 17-19533948-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.73
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available