A7P (p.Ala7Pro) variant of CPS1 (P31327)
A7P (p.Ala7Pro) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- gnomAD rs1189535504
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.66
- CADD 25.40
- PolyPhen-2 0.55
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available