V35M (p.Val35Met) variant of OTC (P00480)
V35M (p.Val35Met) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V35M (p.Val35Met) variant details
- p.Val35Met
- gnomAD X-38367316-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.46
- MetaLR 0.81
- MetaSVM 0.61
- CADD 22.60
- PolyPhen-2 0.18
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available