A55S (p.Ala55Ser) variant of OCA2 (P protein)
A55S (p.Ala55Ser) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A55S (p.Ala55Ser) variant details
- p.Ala55Ser
- ExAC rs749418896
- TOPMed rs749418896
- gnomAD rs749418896
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.72
- MetaSVM -0.11
- CADD 1.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available