V71M (p.Val71Met) variant of CPS1 (P31327)
V71M (p.Val71Met) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
V71M (p.Val71Met) variant details
- p.Val71Met
- TOPMed rs1256930702
- gnomAD rs1256930702
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.81
- CADD 26.80
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available