T24I (p.Thr24Ile) variant of CPS1 (P31327)
T24I (p.Thr24Ile) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T24I (p.Thr24Ile) variant details
- p.Thr24Ile
- TOPMed rs760541781
- gnomAD rs760541781
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.31
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available