L39P (p.Leu39Pro) variant of CPS1 (P31327)
L39P (p.Leu39Pro) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L39P (p.Leu39Pro) variant details
- p.Leu39Pro
- gnomAD 2-210556849-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.58
- CADD 24.20
- PolyPhen-2 0.06
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available