F44S (p.Phe44Ser) variant of ASS1 (Argininosuccinate synthase)
F44S (p.Phe44Ser) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
F44S (p.Phe44Ser) variant details
- p.Phe44Ser
- gnomAD 9-130454330-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.86
- CADD 25.50
- PolyPhen-2 0.14
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available