T17N (p.Thr17Asn) variant of ASS1 (Argininosuccinate synthase)
T17N (p.Thr17Asn) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T17N (p.Thr17Asn) variant details
- p.Thr17Asn
- gnomAD 9-130452278-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.92
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available