I38F (p.Ile38Phe) variant of ASS1 (Argininosuccinate synthase)
I38F (p.Ile38Phe) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I38F (p.Ile38Phe) variant details
- p.Ile38Phe
- gnomAD 9-130454311-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.89
- CADD 23.30
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available