T66K (p.Thr66Lys) variant of ALPL (P05186)
T66K (p.Thr66Lys) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
T66K (p.Thr66Lys) variant details
- p.Thr66Lys
- gnomAD 1-21561112-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.94
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available