N22S (p.Asn22Ser) variant of CPS1 (P31327)
N22S (p.Asn22Ser) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N22S (p.Asn22Ser) variant details
- p.Asn22Ser
- Ensembl rs1696927100
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.24
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available