T17T (p.Thr17Thr) variant of ASS1 (Argininosuccinate synthase)
T17T (p.Thr17Thr) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T17T (p.Thr17Thr) variant details
- p.Thr17Thr
- gnomAD 9-130452279-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 7.49
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available