P15S (p.Pro15Ser) variant of OCA2 (P protein)
P15S (p.Pro15Ser) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- ExAC rs775303364
- TOPMed rs775303364
- gnomAD rs775303364
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.48
- MetaSVM -0.54
- CADD 14.61
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available