L2V (p.Leu2Val) variant of OTC (P00480)
L2V (p.Leu2Val) in OTC (P00480) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L2V (p.Leu2Val) variant details
- p.Leu2Val
- ExAC rs766633337
- TOPMed rs766633337
- gnomAD rs766633337
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.48
- MetaLR 0.88
- MetaSVM 0.89
- CADD 21.60
- PolyPhen-2 0.09
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available