A43T (p.Ala43Thr) variant of CPS1 (P31327)
A43T (p.Ala43Thr) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- TOPMed rs1697578176
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.46
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available