M21I (p.Met21Ile) variant of OTC (P00480)
M21I (p.Met21Ile) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
M21I (p.Met21Ile) variant details
- p.Met21Ile
- gnomAD X-38352759-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.29
- MetaLR 0.85
- MetaSVM 0.53
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available