S29A (p.Ser29Ala) variant of SLC47A1 (Q96FL8)
S29A (p.Ser29Ala) in SLC47A1 (Q96FL8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S29A (p.Ser29Ala) variant details
- p.Ser29Ala
- rs1272832115
- gnomAD 17-19534018-C-CGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 21.70
- Population evidence available
- Structural context available
- Literature evidence available