N22D (p.Asn22Asp) variant of CPS1 (P31327)
N22D (p.Asn22Asp) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N22D (p.Asn22Asp) variant details
- p.Asn22Asp
- TOPMed rs1696926949
- gnomAD rs1696926949
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.26
- CADD 16.90
- PolyPhen-2 0.03
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available