Y29C (p.Tyr29Cys) variant of ASS1 (Argininosuccinate synthase)
Y29C (p.Tyr29Cys) 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 0.79 / 1. The record also includes population frequency data and structural context.
Y29C (p.Tyr29Cys) variant details
- p.Tyr29Cys
- rs1457270102
- ClinGen CA375223632
- ClinVar RCV001297859
- TOPMed rs1457270102
- Uncertain significance
- Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.87
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Citrullinemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available