S59G (p.Ser59Gly) variant of OCA2 (P protein)
S59G (p.Ser59Gly) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S59G (p.Ser59Gly) variant details
- p.Ser59Gly
- TOPMed rs2044629602
- gnomAD rs2044629602
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.72
- MetaSVM -0.02
- CADD 9.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available