P14S (p.Pro14Ser) variant of SLC47A1 (Q96FL8)
P14S (p.Pro14Ser) 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.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- gnomAD 17-19533979-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.03
- CADD 9.16
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available