V11L (p.Val11Leu) variant of CPS1 (P31327)
V11L (p.Val11Leu) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V11L (p.Val11Leu) variant details
- p.Val11Leu
- ExAC rs754467312
- TOPMed rs754467312
- gnomAD rs754467312
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.33
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available