A12E (p.Ala12Glu) variant of OTC (P00480)
A12E (p.Ala12Glu) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- gnomAD X-38352731-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.44
- MetaLR 0.85
- MetaSVM 0.63
- CADD 18.50
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available