I48T (p.Ile48Thr) variant of CPS1 (P31327)
I48T (p.Ile48Thr) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
I48T (p.Ile48Thr) variant details
- p.Ile48Thr
- cosmic curated COSV10802
- TOPMed rs1471219147
- gnomAD rs1471219147
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.84
- CADD 24.10
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available