L76F (p.Leu76Phe) variant of OTC (P00480)
L76F (p.Leu76Phe) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
L76F (p.Leu76Phe) variant details
- p.Leu76Phe
- rs1555972495
- ClinGen CA412716809
- ClinVar RCV000597047
- ClinVar RCV004526711
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.21
- MetaLR 0.94
- MetaSVM 0.99
- PolyPhen-2 0.97
- SIFT 0.13
- EVE 0.22
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available