E107D (p.Glu107Asp) variant of OCA2 (P protein)
E107D (p.Glu107Asp) in OCA2 (P protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E107D (p.Glu107Asp) variant details
- p.Glu107Asp
- TOPMed rs1225371196
- gnomAD rs1225371196
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.58
- MetaSVM -0.42
- CADD 4.90
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available