A123D (p.Ala123Asp) variant of OCA2 (P protein)
A123D (p.Ala123Asp) 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 0.26 / 1. The record also includes population frequency data and structural context.
A123D (p.Ala123Asp) variant details
- p.Ala123Asp
- ESP rs370230176
- ExAC rs370230176
- TOPMed rs370230176
- gnomAD rs370230176
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.50
- MetaSVM -0.58
- CADD 1.27
- 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