Q58K (p.Gln58Lys) variant of OCA2 (P protein)
Q58K (p.Gln58Lys) in OCA2 (P protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
Q58K (p.Gln58Lys) variant details
- p.Gln58Lys
- ExAC rs781727577
- TOPMed rs781727577
- gnomAD rs781727577
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.69
- CADD 0.68
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available