S40F (p.Ser40Phe) variant of CPS1 (P31327)
S40F (p.Ser40Phe) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S40F (p.Ser40Phe) variant details
- p.Ser40Phe
- ExAC rs768584680
- gnomAD rs768584680
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.63
- CADD 22.90
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available