A36T (p.Ala36Thr) variant of ASS1 (Argininosuccinate synthase)
A36T (p.Ala36Thr) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- gnomAD 9-130454305-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 0.63
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available