T17A (p.Thr17Ala) variant of ASS1 (Argininosuccinate synthase)
T17A (p.Thr17Ala) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
T17A (p.Thr17Ala) variant details
- p.Thr17Ala
- TOPMed rs1845345661
- gnomAD rs1845345661
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.97
- CADD 27.10
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available