R37S (p.Arg37Ser) variant of CPS1 (P31327)
R37S (p.Arg37Ser) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R37S (p.Arg37Ser) variant details
- p.Arg37Ser
- ExAC rs779953205
- gnomAD rs779953205
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.53
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available