M56V (p.Met56Val) variant of OTC (P00480)
M56V (p.Met56Val) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
M56V (p.Met56Val) variant details
- p.Met56Val
- gnomAD X-38367379-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.45
- MetaLR 0.77
- MetaSVM 0.26
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available