E30Q (p.Glu30Gln) variant of OCA2 (P protein)
E30Q (p.Glu30Gln) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E30Q (p.Glu30Gln) variant details
- p.Glu30Gln
- ExAC rs770810288
- TOPMed rs770810288
- gnomAD rs770810288
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.55
- MetaSVM -0.33
- CADD 2.65
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available