H47N (p.His47Asn) variant of CPS1 (P31327)
H47N (p.His47Asn) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
H47N (p.His47Asn) variant details
- p.His47Asn
- TOPMed rs1159264194
- gnomAD rs1159264194
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.26
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available