T53K (p.Thr53Lys) variant of SLC34A3 (Q8N130)
T53K (p.Thr53Lys) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T53K (p.Thr53Lys) variant details
- p.Thr53Lys
- gnomAD 9-137232144-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- MetaLR 0.08
- MetaSVM -1.04
- CADD 17.20
- PolyPhen-2 0.08
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available