A36D (p.Ala36Asp) variant of ASS1 (Argininosuccinate synthase)
A36D (p.Ala36Asp) 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 and structural context.
A36D (p.Ala36Asp) variant details
- p.Ala36Asp
- gnomAD rs1479796639
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.96
- CADD 28.90
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available