N37K (p.Asn37Lys) variant of ASS1 (Argininosuccinate synthase)
N37K (p.Asn37Lys) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
N37K (p.Asn37Lys) variant details
- p.Asn37Lys
- Ensembl rs1845388217
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.64
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available