L37P (p.Leu37Pro) variant of OTC (P00480)
L37P (p.Leu37Pro) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L37P (p.Leu37Pro) variant details
- p.Leu37Pro
- gnomAD X-38367323-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.87
- MetaLR 0.93
- MetaSVM 1.11
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available