A55T (p.Ala55Thr) variant of OCA2 (P protein)
A55T (p.Ala55Thr) 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 population frequency data and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- ExAC rs749418896
- TOPMed rs749418896
- gnomAD rs749418896
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.71
- MetaSVM -0.21
- CADD 2.30
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available