A64T (p.Ala64Thr) variant of OCA2 (P protein)
A64T (p.Ala64Thr) in OCA2 (P protein) is a missense change. 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.
A64T (p.Ala64Thr) variant details
- p.Ala64Thr
- ExAC rs753368228
- TOPMed rs753368228
- gnomAD rs753368228
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.47
- MetaSVM -0.61
- CADD 4.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available