p.Ala43 Gln44del variant of CPS1 (P31327)
p.Ala43 Gln44del in CPS1 (P31327) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala43 Gln44del variant details
- gnomAD 2-210573294-TCAGG
- Splice Acceptor
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 24.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available