L50V (p.Leu50Val) variant of SLC34A3 (Q8N130)
L50V (p.Leu50Val) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- ExAC rs763707162
- gnomAD rs763707162
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- MetaLR 0.10
- MetaSVM -0.72
- CADD 21.00
- PolyPhen-2 0.26
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available