F72I (p.Phe72Ile) variant of ASS1 (Argininosuccinate synthase)
F72I (p.Phe72Ile) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Citrullinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
F72I (p.Phe72Ile) variant details
- p.Phe72Ile
- rs1845500156
- ClinGen CA375224957
- ClinVar RCV003878027
- TOPMed rs1845500156
- Likely pathogenic
- Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.90
- CADD 25.00
- ClinVar: Likely pathogenic (Citrullinemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available