G5C (p.Gly5Cys) variant of OCA2 (P protein)
G5C (p.Gly5Cys) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- gnomAD rs1429007465
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.52
- MetaSVM -0.29
- CADD 18.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available