I36T (p.Ile36Thr) variant of CPS1 (P31327)
I36T (p.Ile36Thr) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I36T (p.Ile36Thr) variant details
- p.Ile36Thr
- TOPMed rs976040223
- gnomAD rs976040223
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.37
- CADD 15.80
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available