P34P (p.Pro34Pro) variant of CPS1 (P31327)
P34P (p.Pro34Pro) in CPS1 (P31327) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P34P (p.Pro34Pro) variant details
- p.Pro34Pro
- gnomAD 2-210556721-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 7.39
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available