L60I (p.Leu60Ile) variant of SLC34A3 (Q8N130)
L60I (p.Leu60Ile) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L60I (p.Leu60Ile) variant details
- p.Leu60Ile
- gnomAD 9-137232577-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- MetaLR 0.06
- MetaSVM -1.03
- CADD 12.20
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available