T75N (p.Thr75Asn) variant of CPS1 (P31327)
T75N (p.Thr75Asn) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
T75N (p.Thr75Asn) variant details
- p.Thr75Asn
- ExAC rs760025125
- gnomAD rs760025125
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.91
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available