R88K (p.Arg88Lys) variant of OCA2 (P protein)
R88K (p.Arg88Lys) 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 structural context.
R88K (p.Arg88Lys) variant details
- p.Arg88Lys
- TOPMed rs2042923427
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.47
- MetaSVM -0.69
- CADD 13.64
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available