T2T (p.Thr2Thr) variant of CPS1 (P31327)
T2T (p.Thr2Thr) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T2T (p.Thr2Thr) variant details
- p.Thr2Thr
- rs374246990
- gnomAD 2-210556739-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 8.68
- Most common in the African/African-American population (allele frequency 0.00044)
- Structural context available
- Literature evidence available