T17I (p.Thr17Ile) variant of ASS1 (Argininosuccinate synthase)
T17I (p.Thr17Ile) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- gnomAD 9-130452278-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.97
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available