G39C (p.Gly39Cys) variant of ASS1 (Argininosuccinate synthase)
G39C (p.Gly39Cys) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G39C (p.Gly39Cys) variant details
- p.Gly39Cys
- gnomAD 9-130454314-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available