P64P (p.Pro64Pro) variant of CPS1 (P31327)
P64P (p.Pro64Pro) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P64P (p.Pro64Pro) variant details
- p.Pro64Pro
- rs772730335
- gnomAD 2-210573363-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 9.86
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available