L160P (p.Leu160Pro) variant of ASS1 (Argininosuccinate synthase)
L160P (p.Leu160Pro) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L160P (p.Leu160Pro) variant details
- p.Leu160Pro
- rs969835605
- ClinGen CA200614135
- cosmic curated COSV61690
- ClinVar RCV001283858
- Likely pathogenic
- Citrullinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Citrullinemia)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. (PMID 19006241)
- Cited in: Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural… (PMID 28111830)