R3R (p.Arg3Arg) variant of CPS1 (P31327)
R3R (p.Arg3Arg) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R3R (p.Arg3Arg) variant details
- p.Arg3Arg
- rs2106037152
- gnomAD 2-210556742-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 11.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available