T54T (p.Thr54Thr) variant of CPS1 (P31327)
T54T (p.Thr54Thr) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T54T (p.Thr54Thr) variant details
- p.Thr54Thr
- gnomAD 2-210573333-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0901
- CADD 1.33
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available