S29P (p.Ser29Pro) variant of SLC47A1 (Q96FL8)
S29P (p.Ser29Pro) in SLC47A1 (Q96FL8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S29P (p.Ser29Pro) variant details
- p.Ser29Pro
- gnomAD 17-19534022-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.784
- CADD 22.70
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available