I113V (p.Ile113Val) variant of OCA2 (P protein)
I113V (p.Ile113Val) in OCA2 (P protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
I113V (p.Ile113Val) variant details
- p.Ile113Val
- 1000Genomes rs529695988
- TOPMed rs529695988
- gnomAD rs529695988
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.45
- MetaSVM -0.54
- CADD 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available