L39H (p.Leu39His) variant of CPS1 (P31327)
L39H (p.Leu39His) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L39H (p.Leu39His) variant details
- p.Leu39His
- gnomAD rs1422483042
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.58
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available