L21F (p.Leu21Phe) variant of ASS1 (Argininosuccinate synthase)
L21F (p.Leu21Phe) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- Ensembl rs1845345943
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.90
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available