D30N (p.Asp30Asn) variant of ASS1 (Argininosuccinate synthase)
D30N (p.Asp30Asn) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- cosmic curated COSV61690
- ExAC rs758038108
- TOPMed rs758038108
- gnomAD rs758038108
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.71
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available