Q27R (p.Gln27Arg) variant of CPS1 (P31327)
Q27R (p.Gln27Arg) in CPS1 (P31327) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- rs1279373364
- gnomAD rs1279373364
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.31
- CADD 7.69
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available