S29Y (p.Ser29Tyr) variant of SLC47A1 (Q96FL8)
S29Y (p.Ser29Tyr) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S29Y (p.Ser29Tyr) variant details
- p.Ser29Tyr
- gnomAD 17-19534025-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.05
- CADD 16.40
- PolyPhen-2 0.40
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available