K57N (p.Lys57Asn) variant of CPS1 (P31327)
K57N (p.Lys57Asn) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K57N (p.Lys57Asn) variant details
- p.Lys57Asn
- gnomAD rs1697580152
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.36
- CADD 18.50
- PolyPhen-2 0.05
- SIFT 0.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available