V69V (p.Val69Val) variant of ASS1 (Argininosuccinate synthase)
V69V (p.Val69Val) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V69V (p.Val69Val) variant details
- p.Val69Val
- rs2131873972
- gnomAD 9-130458433-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 11.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available