A3D (p.Ala3Asp) variant of SLC47A1 (Q96FL8)
A3D (p.Ala3Asp) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- gnomAD 17-19533947-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0933
- REVEL 0.06
- CADD 2.42
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available