T49T (p.Thr49Thr) variant of OTC (P00480)
T49T (p.Thr49Thr) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
T49T (p.Thr49Thr) variant details
- p.Thr49Thr
- rs144153859
- gnomAD X-38367360-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.50
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available