P56L (p.Pro56Leu) variant of SLC34A3 (Q8N130)
P56L (p.Pro56Leu) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- gnomAD 9-137232153-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- MetaLR 0.05
- MetaSVM -1.04
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available