A30T (p.Ala30Thr) variant of SLC47A1 (Q96FL8)
A30T (p.Ala30Thr) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- gnomAD 17-19534027-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.02
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available