T13T (p.Thr13Thr) variant of CPS1 (P31327)
T13T (p.Thr13Thr) 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.
T13T (p.Thr13Thr) variant details
- p.Thr13Thr
- rs755098080
- gnomAD 2-210556772-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0901
- CADD 1.34
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available