I32T (p.Ile32Thr) variant of ASS1 (Argininosuccinate synthase)
I32T (p.Ile32Thr) 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 and structural context.
I32T (p.Ile32Thr) variant details
- p.Ile32Thr
- gnomAD rs1313069512
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.96
- CADD 23.40
- PolyPhen-2 0.31
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available