G13S (p.Gly13Ser) variant of SLC47A1 (Q96FL8)
G13S (p.Gly13Ser) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G13S (p.Gly13Ser) variant details
- p.Gly13Ser
- gnomAD 17-19533976-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.00
- CADD 6.88
- PolyPhen-2 0.02
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available