P9Q (p.Pro9Gln) variant of SLC47A1 (Q96FL8)
P9Q (p.Pro9Gln) in SLC47A1 (Q96FL8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P9Q (p.Pro9Gln) variant details
- p.Pro9Gln
- gnomAD 17-19533963-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 19.00
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- Structural context available
- Literature evidence available