G54E (p.Gly54Glu) variant of OCA2 (P protein)
G54E (p.Gly54Glu) in OCA2 (P protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
G54E (p.Gly54Glu) variant details
- p.Gly54Glu
- rs965907142
- gnomAD rs965907142
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.46
- MetaSVM -0.59
- CADD 0.48
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available