K50T (p.Lys50Thr) variant of ASS1 (Argininosuccinate synthase)
K50T (p.Lys50Thr) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
K50T (p.Lys50Thr) variant details
- p.Lys50Thr
- gnomAD 9-130454348-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.94
- CADD 26.90
- PolyPhen-2 0.64
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available