A30S (p.Ala30Ser) variant of SLC47A1 (Q96FL8)
A30S (p.Ala30Ser) 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.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD 17-19534027-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.01
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available