L24R (p.Leu24Arg) variant of ASS1 (Argininosuccinate synthase)
L24R (p.Leu24Arg) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
L24R (p.Leu24Arg) variant details
- p.Leu24Arg
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.99
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available