T54I (p.Thr54Ile) variant of CPS1 (P31327)
T54I (p.Thr54Ile) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
T54I (p.Thr54Ile) variant details
- p.Thr54Ile
- ESP rs371343440
- TOPMed rs371343440
- gnomAD rs371343440
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.77
- CADD 24.30
- PolyPhen-2 0.37
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available