L15M (p.Leu15Met) variant of SLC34A3 (Q8N130)
L15M (p.Leu15Met) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L15M (p.Leu15Met) variant details
- p.Leu15Met
- gnomAD 9-137231745-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- MetaLR 0.14
- MetaSVM -1.03
- CADD 20.60
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available