S60A (p.Ser60Ala) variant of CPS1 (P31327)
S60A (p.Ser60Ala) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
S60A (p.Ser60Ala) variant details
- p.Ser60Ala
- TOPMed rs1022147946
- gnomAD rs1022147946
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.85
- CADD 24.20
- PolyPhen-2 0.58
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available