I38T (p.Ile38Thr) variant of ASS1 (Argininosuccinate synthase)
I38T (p.Ile38Thr) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
I38T (p.Ile38Thr) variant details
- p.Ile38Thr
- TOPMed rs1845388353
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.81
- CADD 24.20
- PolyPhen-2 0.35
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available