S40S (p.Ser40Ser) variant of CPS1 (P31327)
S40S (p.Ser40Ser) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S40S (p.Ser40Ser) variant details
- p.Ser40Ser
- gnomAD 2-210556853-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 7.89
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available