P14Q (p.Pro14Gln) variant of SLC47A1 (Q96FL8)
P14Q (p.Pro14Gln) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
P14Q (p.Pro14Gln) variant details
- p.Pro14Gln
- gnomAD 17-19533980-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.055
- REVEL 0.03
- CADD 4.59
- PolyPhen-2 0.17
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available