A64P (p.Ala64Pro) variant of OCA2 (P protein)
A64P (p.Ala64Pro) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes structural context.
A64P (p.Ala64Pro) variant details
- p.Ala64Pro
- ExAC rs753368228
- TOPMed rs753368228
- gnomAD rs753368228
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.48
- MetaSVM -0.49
- CADD 5.58
- Structural context available