W57R (p.Trp57Arg) variant of SLC34A3 (Q8N130)
W57R (p.Trp57Arg) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
W57R (p.Trp57Arg) variant details
- p.Trp57Arg
- gnomAD 9-137232155-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- MetaLR 0.11
- MetaSVM -0.97
- CADD 23.70
- PolyPhen-2 0.35
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available