H26H (p.His26His) variant of CPS1 (P31327)
H26H (p.His26His) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
H26H (p.His26His) variant details
- p.His26His
- rs745616278
- gnomAD 2-210556811-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.85
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available