F20I (p.Phe20Ile) variant of CPS1 (P31327)
F20I (p.Phe20Ile) in CPS1 (P31327) is a missense 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.
F20I (p.Phe20Ile) variant details
- p.Phe20Ile
- gnomAD 2-210556791-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.32
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available