N22N (p.Asn22Asn) variant of CPS1 (P31327)
N22N (p.Asn22Asn) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
N22N (p.Asn22Asn) variant details
- p.Asn22Asn
- rs2106037321
- gnomAD 2-210556799-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.31
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available