V20A (p.Val20Ala) variant of SLC47A1 (Q96FL8)
V20A (p.Val20Ala) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- gnomAD 17-19533998-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.01
- CADD 7.55
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available