V11V (p.Val11Val) variant of CPS1 (P31327)
V11V (p.Val11Val) in CPS1 (P31327) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V11V (p.Val11Val) variant details
- p.Val11Val
- gnomAD 2-210556766-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 9.84
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available