F60I (p.Phe60Ile) variant of ASS1 (Argininosuccinate synthase)
F60I (p.Phe60Ile) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
F60I (p.Phe60Ile) variant details
- p.Phe60Ile
- gnomAD 9-130458404-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.55
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.65
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available