T16N (p.Thr16Asn) variant of CPS1 (P31327)
T16N (p.Thr16Asn) in CPS1 (P31327) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Congenital hyperammonemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T16N (p.Thr16Asn) variant details
- p.Thr16Asn
- Ensembl rs1696926576
- Uncertain significance
- Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.36
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Congenital hyperammonemia, type I)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available