P34L (p.Pro34Leu) variant of CPS1 (P31327)
P34L (p.Pro34Leu) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- gnomAD 2-210556720-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 13.40
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available