H47H (p.His47His) variant of CPS1 (P31327)
H47H (p.His47His) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H47H (p.His47His) variant details
- p.His47His
- rs2106073214
- gnomAD 2-210573312-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 9.18
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available