Q29P (p.Gln29Pro) variant of OTC (P00480)
Q29P (p.Gln29Pro) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Q29P (p.Gln29Pro) variant details
- p.Gln29Pro
- 1000Genomes rs759104592
- ExAC rs759104592
- gnomAD rs759104592
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.50
- MetaLR 0.85
- MetaSVM 0.31
- CADD 18.40
- SIFT 0.33
- Most common in the 1KG:CDX population (allele frequency 0.0075)
- Structural context available