S60T (p.Ser60Thr) variant of CPS1 (P31327)
S60T (p.Ser60Thr) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
S60T (p.Ser60Thr) variant details
- p.Ser60Thr
- TOPMed rs1022147946
- gnomAD rs1022147946
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.92
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available