p.Ile5 Lys6insPhe variant of CPS1 (P31327)
p.Ile5 Lys6insPhe in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ile5 Lys6insPhe variant details
- rs61509952
- gnomAD 2-210556728-A-ATC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 15.40
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)