I7V (p.Ile7Val) variant of OTC (P00480)
I7V (p.Ile7Val) 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 and structural context.
I7V (p.Ile7Val) variant details
- p.Ile7Val
- ExAC rs767170971
- gnomAD rs767170971
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.36
- MetaLR 0.86
- MetaSVM 0.48
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available