L54F (p.Leu54Phe) variant of ASS1 (Argininosuccinate synthase)
L54F (p.Leu54Phe) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- Ensembl rs1564902078
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.58
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available