T6T (p.Thr6Thr) variant of CPS1 (P31327)
T6T (p.Thr6Thr) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T6T (p.Thr6Thr) variant details
- p.Thr6Thr
- gnomAD 2-210556751-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 10.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available