I36L (p.Ile36Leu) variant of CPS1 (P31327)
I36L (p.Ile36Leu) in CPS1 (P31327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I36L (p.Ile36Leu) variant details
- p.Ile36Leu
- gnomAD 2-210556839-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.41
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available