G35S (p.Gly35Ser) variant of CPS1 (P31327)
G35S (p.Gly35Ser) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G35S (p.Gly35Ser) variant details
- p.Gly35Ser
- cosmic curated COSV51804
- gnomAD rs1696928131
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.26
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available