I113L (p.Ile113Leu) variant of OCA2 (P protein)
I113L (p.Ile113Leu) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, 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 0.17 / 1. The record also includes population frequency data and structural context.
I113L (p.Ile113Leu) variant details
- p.Ile113Leu
- 1000Genomes rs529695988
- TOPMed rs529695988
- gnomAD rs529695988
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.48
- MetaSVM -0.56
- CADD 1.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available