A56T (p.Ala56Thr) variant of OCA2 (P protein)
A56T (p.Ala56Thr) 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.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- TOPMed rs1457587922
- gnomAD rs1457587922
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.67
- MetaSVM -0.33
- CADD 0.73
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available