V72D (p.Val72Asp) variant of CPS1 (P31327)
V72D (p.Val72Asp) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
V72D (p.Val72Asp) variant details
- p.Val72Asp
- gnomAD rs1339181885
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.98
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available