V11M (p.Val11Met) variant of CPS1 (P31327)
V11M (p.Val11Met) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V11M (p.Val11Met) variant details
- p.Val11Met
- ExAC rs754467312
- TOPMed rs754467312
- gnomAD rs754467312
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.30
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available