P14L (p.Pro14Leu) variant of SLC47A1 (Q96FL8)
P14L (p.Pro14Leu) 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.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- gnomAD 17-19533980-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0523
- REVEL 0.02
- CADD 6.03
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available