G8S (p.Gly8Ser) variant of OCA2 (P protein)
G8S (p.Gly8Ser) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- 1000Genomes rs574772268
- ExAC rs574772268
- TOPMed rs574772268
- gnomAD rs574772268
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.59
- MetaSVM -0.49
- CADD 8.02
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available