I61T (p.Ile61Thr) variant of ASS1 (Argininosuccinate synthase)
I61T (p.Ile61Thr) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Citrullinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
I61T (p.Ile61Thr) variant details
- p.Ile61Thr
- rs769314825
- ClinGen CA5283194
- ClinVar RCV002886540
- ExAC rs769314825
- Uncertain significance
- Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.89
- CADD 24.10
- PolyPhen-2 0.28
- SIFT 0.03
- ClinVar: Uncertain significance (Citrullinemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available