L54H (p.Leu54His) variant of ASS1 (Argininosuccinate synthase)
L54H (p.Leu54His) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
L54H (p.Leu54His) variant details
- p.Leu54His
- gnomAD 9-130454360-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.89
- CADD 27.30
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available